ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q15(chr6:89720586-90415315)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ANKRD6 | - | - |
GRCh38 GRCh37 |
69 | 99 | |
GABRR1 | - | - |
GRCh38 GRCh37 |
28 | 49 | |
GABRR2 | - | - |
GRCh38 GRCh37 |
38 | 63 | |
LYRM2 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
MDN1 | - | - |
GRCh38 GRCh38 GRCh37 |
272 | 437 | |
PM20D2 | - | - |
GRCh38 GRCh37 |
15 | 64 | |
PNRC1 | - | - |
GRCh38 GRCh37 |
30 | 51 | |
RRAGD | - | - |
GRCh38 GRCh37 |
6 | 41 | |
SRSF12 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
UBE2J1 | - | - |
GRCh38 GRCh37 |
17 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053596.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022