ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:33073917-33863479)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
RAD51D | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
33 | 1815 | |
CCT6B | - | - |
GRCh38 GRCh37 |
31 | 44 | |
FNDC8 | - | - | - |
GRCh38 GRCh37 |
20 | 43 |
LIG3 | - | - |
GRCh38 GRCh37 |
104 | 115 | |
NLE1 | - | - | - |
GRCh38 GRCh37 |
33 | 55 |
RFFL | - | - |
GRCh38 GRCh37 |
- | 34 | |
SLC35G3 | - | - | - |
GRCh38 GRCh37 |
41 | 54 |
SLFN11 | - | - |
GRCh38 GRCh37 |
76 | 92 | |
SLFN12 | - | - |
GRCh38 GRCh37 |
38 | 56 | |
SLFN12L | - | - |
GRCh38 GRCh37 |
34 | 48 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 15, 2018 | RCV001006894.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023