Human Genome Sequencing Center Clinical Lab (Baylor College of Medicine), HGSC-CL
General information
Human Genome Sequencing Center Clinical Lab, HGSC-CL
Baylor College of Medicine
One Baylor Plaza
Room R830
Houston
Texas
United States - 77030
http://hgsc.bcm.edu/
Organization ID: 500199
Baylor College of Medicine
One Baylor Plaza
Room R830
Houston
Texas
United States - 77030
http://hgsc.bcm.edu/
Organization ID: 500199
Personnel
- Adam Hanson, Staff
Phone: 713-798-6539
Email: adam.hansen@bcm.edu - Yunyun Jiang, Contact
Phone: 713 798 3936
Email: Yunyun.Jiang@bcm.edu - He Li, Staff
Phone: 713 798 3936
Email: he.li@bcm.edu - Eric Venner, Contact
Phone: 713 798 9132
Email: venner@bcm.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 721
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 1 | Jul 14, 2021 |
| ACTA2 | 1 | Apr 23, 2020 |
| ACTA2-AS1 | 1 | Apr 23, 2020 |
| AHDC1 | 27 | Feb 15, 2021 |
| ALK | 1 | Sep 6, 2020 |
| APC | 4 | May 6, 2024 |
| APOB | 9 | May 6, 2024 |
| ATM | 22 | Apr 23, 2020 |
| ATP1A2 | 1 | Apr 23, 2020 |
| BMPR1A | 1 | Apr 23, 2020 |
| BRCA1 | 48 | May 6, 2024 |
| BRCA2 | 67 | May 6, 2024 |
| C11orf65 | 10 | Apr 23, 2020 |
| CACNA1A | 3 | Apr 23, 2020 |
| CACNA1S | 3 | May 6, 2024 |
| CBL | 2 | Sep 6, 2020 |
| CCDST | 1 | Jun 14, 2018 |
| CHEK2 | 16 | May 6, 2024 |
| COL3A1 | 7 | May 6, 2024 |
| COL5A1 | 7 | Apr 23, 2020 |
| CYP21A2 | 1 | May 6, 2024 |
| DICER1 | 2 | Sep 6, 2020 |
| DSC2 | 5 | Apr 23, 2020 |
| DSG2 | 8 | Jul 14, 2021 |
| DSG2-AS1 | 4 | Jul 14, 2021 |
| DSP | 14 | May 6, 2024 |
| DSP-AS1 | 1 | Apr 23, 2020 |
| ELN | 1 | Jul 14, 2021 |
| F11 | 2 | Apr 23, 2020 |
| F5 | 1 | Jun 14, 2018 |
| FBN1 | 12 | Jul 14, 2021 |
| FLG | 1 | Jun 14, 2018 |
| GLA | 2 | Jul 14, 2021 |
| HFE | 1 | Jun 14, 2018 |
| HNF1A | 3 | Apr 23, 2020 |
| HNF1B | 2 | Apr 23, 2020 |
| HRAS | 2 | Sep 6, 2020 |
| INSL6 | 1 | Jun 14, 2018 |
| JAK2 | 1 | Jun 14, 2018 |
| KCNE1 | 5 | May 6, 2024 |
| KCNE2 | 1 | Jun 14, 2018 |
| KCNH2 | 10 | May 6, 2024 |
| KCNJ2 | 2 | Apr 23, 2020 |
| KCNQ1 | 18 | May 6, 2024 |
| KCNQ1-AS1 | 2 | Apr 23, 2020 |
| KIF1A | 1 | Apr 27, 2020 |
| LDLR | 89 | May 6, 2024 |
| LDLR-AS1 | 1 | Apr 23, 2020 |
| LMNA | 4 | May 6, 2024 |
| LOC105372791 | 1 | Jun 14, 2018 |
| LOC106780800 | 1 | May 6, 2024 |
| LOC107303340 | 3 | May 6, 2024 |
| LOC107982234 | 1 | Apr 23, 2020 |
| LOC113939944 | 1 | Apr 23, 2020 |
| LOC126805877 | 1 | Apr 23, 2020 |
| LOC126806068 | 1 | Apr 23, 2020 |
| LOC126861897 | 1 | Apr 23, 2020 |
| LOC126861898 | 2 | Jun 14, 2018 |
| LOC126862482 | 1 | May 8, 2020 |
| LOC126862571 | 10 | May 6, 2024 |
| LOC130062899 | 1 | Apr 23, 2020 |
| LPL | 3 | Jul 14, 2021 |
| LRRC56 | 2 | Sep 6, 2020 |
| MC4R | 3 | Jun 14, 2018 |
| MED13L | 1 | Dec 10, 2019 |
| MEFV | 1 | Jun 14, 2018 |
| MEN1 | 2 | Apr 23, 2020 |
| MHRT | 1 | Apr 23, 2020 |
| MLH1 | 12 | May 6, 2024 |
| MSH2 | 7 | May 6, 2024 |
| MSH6 | 14 | May 6, 2024 |
| MUTYH | 4 | May 6, 2024 |
| MYBPC3 | 15 | May 6, 2024 |
| MYH11 | 5 | Apr 23, 2020 |
| MYH7 | 17 | May 6, 2024 |
| MYL3 | 1 | Jun 14, 2018 |
| MYLK | 3 | May 6, 2024 |
| NDE1 | 2 | Apr 23, 2020 |
| NEXN | 1 | Jul 14, 2021 |
| NF1 | 9 | Sep 6, 2020 |
| OTC | 1 | Jun 14, 2018 |
| PALB2 | 17 | Apr 23, 2020 |
| PCSK9 | 4 | Apr 23, 2020 |
| PKP2 | 14 | May 6, 2024 |
| PMS2 | 20 | May 6, 2024 |
| POLE | 1 | Apr 23, 2020 |
| POLR2A | 11 | May 8, 2020 |
| PRKAR1A | 1 | Jul 14, 2021 |
| PTCH1 | 1 | Sep 6, 2020 |
| PTEN | 7 | May 6, 2024 |
| RET | 6 | May 6, 2024 |
| RPL36A-HNRNPH2 | 2 | Jul 14, 2021 |
| RYR1 | 33 | May 6, 2024 |
| RYR2 | 6 | Apr 23, 2020 |
| SCN5A | 12 | May 6, 2024 |
| SDHA | 4 | Jul 14, 2021 |
| SDHB | 3 | May 6, 2024 |
| SDHC | 6 | May 6, 2024 |
| SDHD | 1 | May 6, 2024 |
| SERPINA1 | 1 | Jun 14, 2018 |
| SMAD3 | 1 | Jun 14, 2018 |
| SMAD4 | 1 | Jun 14, 2018 |
| STK11 | 2 | Apr 23, 2020 |
| TGFB2 | 1 | Jul 14, 2021 |
| TGFBR2 | 3 | Apr 23, 2020 |
| TMEM43 | 2 | Apr 23, 2020 |
| TNNI3 | 6 | May 6, 2024 |
| TNNT2 | 5 | Apr 23, 2020 |
| TOR1A | 1 | Apr 23, 2020 |
| TP53 | 19 | May 6, 2024 |
| TPM1 | 1 | Apr 23, 2020 |
| TSC1 | 2 | Apr 23, 2020 |
| TSC2 | 9 | May 6, 2024 |
| TTN | 3 | Jul 14, 2021 |
| TTN-AS1 | 3 | Jul 14, 2021 |
| TUSC3 | 1 | Dec 6, 2019 |
| UMOD | 3 | Apr 23, 2020 |
| VHL | 3 | May 6, 2024 |
| WT1 | 2 | Apr 23, 2020 |