Petrovsky National Research Centre of Surgery (The Federal Agency for Scientific Organizations), NRCS
General information
Petrovsky National Research Centre of Surgery, NRCS
The Federal Agency for Scientific Organizations
2, Abricosovskiy Pereulok
Moscow
Moscow City
Russia - 119991
http://www.med.ru/
Organization ID: 505794
The Federal Agency for Scientific Organizations
2, Abricosovskiy Pereulok
Moscow
Moscow City
Russia - 119991
http://www.med.ru/
Organization ID: 505794
Personnel
- Igor Islanov, Principal Investigator
Phone: +79959192856
Email: islanov.bioinformatics@med.ru - Olga Kardymon, Principal Investigator
Phone: +79851522840
Email: olgakardymon@gmail.com - Yulia Rogozhina, Principal Investigator
Phone: +74992485495
Email: julia.rogozhina@gmail.com - Valeria Rusinova, Principal Investigator
Phone: +79853071601
Email: rusinovavaleria@yandex.ru - Mari Sadekova, Staff
Phone: +74992485495
Email: marisadekova@gmail.com - Anna Shestak, Principal Investigator
Phone: +74992485495
Email: anna.shestak87@gmail.com - Helene Zaklyazminskaya, Lab Director
Phone: +74992485495
Email: helenezak@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 193
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 1 | Dec 12, 2023 |
| ACTA2 | 1 | Dec 20, 2023 |
| ACTC1 | 1 | Nov 22, 2020 |
| ADAMTSL2 | 1 | Dec 14, 2023 |
| ALPK3 | 1 | Feb 15, 2023 |
| ANK2 | 3 | Dec 14, 2023 |
| BAG3 | 1 | Jul 10, 2018 |
| BRCA1 | 1 | Dec 12, 2023 |
| BRCA2 | 1 | Oct 28, 2022 |
| C1R | 1 | Mar 21, 2023 |
| CACNB2 | 1 | Apr 24, 2023 |
| CASQ2 | 1 | Sep 28, 2022 |
| COL1A2 | 1 | Dec 14, 2023 |
| COL2A1 | 1 | May 17, 2024 |
| COL3A1 | 1 | Jun 20, 2024 |
| COL4A5 | 2 | Dec 14, 2023 |
| CSRP3 | 2 | Dec 12, 2023 |
| DCHS1 | 1 | Dec 14, 2023 |
| DES | 5 | Dec 12, 2023 |
| DMD | 1 | Sep 9, 2019 |
| DSG2 | 2 | Sep 8, 2022 |
| DSP | 5 | Jun 20, 2024 |
| DTNA | 1 | Nov 20, 2020 |
| DYSF | 1 | Dec 14, 2023 |
| EDNRB | 2 | Feb 28, 2019 |
| EDNRB-AS1 | 2 | Feb 28, 2019 |
| EMD | 1 | Dec 12, 2023 |
| ENG | 1 | Sep 28, 2022 |
| FBN1 | 47 | Dec 15, 2023 |
| FHOD3 | 1 | Jul 19, 2024 |
| FLNA | 1 | Feb 11, 2022 |
| FLNC | 3 | Aug 13, 2024 |
| FLNC-AS1 | 1 | Jan 3, 2019 |
| GJD2-DT | 1 | Nov 22, 2020 |
| HCN2 | 1 | Dec 14, 2023 |
| KCNH2 | 7 | May 15, 2024 |
| KCNJ16 | 1 | Jun 20, 2024 |
| KCNJ2 | 3 | Dec 12, 2023 |
| KCNQ1 | 5 | Nov 2, 2023 |
| KCNQ1-AS1 | 1 | Apr 11, 2023 |
| LDLR | 1 | Apr 11, 2024 |
| LMNA | 4 | Dec 3, 2020 |
| LOC107988032 | 1 | Feb 11, 2022 |
| LOC126805877 | 1 | Jun 16, 2016 |
| LOC126807136 | 1 | Dec 12, 2023 |
| LOC126861897 | 3 | Jul 18, 2024 |
| LOC126861898 | 2 | Nov 6, 2020 |
| LOC126862085 | 1 | Sep 11, 2024 |
| LOC126862124 | 2 | Aug 29, 2019 |
| LOC130057019 | 1 | Aug 7, 2019 |
| MHRT | 3 | Jul 18, 2024 |
| MIB1 | 1 | Jun 20, 2024 |
| MYBPC3 | 10 | Dec 14, 2023 |
| MYBPHL | 2 | Dec 14, 2023 |
| MYH6 | 1 | Nov 16, 2022 |
| MYH7 | 18 | Jul 18, 2024 |
| MYOZ2 | 1 | Dec 13, 2023 |
| NEBL | 1 | Sep 10, 2019 |
| PKD1 | 1 | May 17, 2024 |
| PKP2 | 4 | Mar 18, 2022 |
| POLR2F | 1 | Nov 19, 2018 |
| RBM20 | 2 | Jul 18, 2024 |
| RET | 1 | Nov 15, 2018 |
| RIT1 | 2 | Jan 17, 2024 |
| RPL3L | 1 | Apr 14, 2023 |
| SCN3B | 1 | Dec 23, 2021 |
| SCN5A | 15 | Jul 18, 2024 |
| SCNN1A | 1 | Jun 20, 2024 |
| SERPINC1 | 1 | Feb 12, 2021 |
| SNTA1 | 1 | Dec 12, 2023 |
| SOS1 | 1 | Dec 12, 2023 |
| SOX10 | 1 | Nov 19, 2018 |
| STK11 | 1 | Oct 28, 2022 |
| TGFBR1 | 1 | Sep 2, 2019 |
| TJP1 | 1 | Sep 11, 2024 |
| TJP2 | 1 | Dec 12, 2023 |
| TNNT2 | 1 | Oct 17, 2019 |
| TPM1 | 3 | Jul 5, 2024 |
| TRPM4 | 1 | Dec 12, 2023 |
| TRPS1 | 1 | Mar 5, 2024 |
| TTN | 1 | Apr 8, 2019 |
| TTN-AS1 | 1 | Apr 8, 2019 |
| VCL | 1 | Dec 12, 2023 |