ClinVar Genomic variation as it relates to human health
Single allele
Germline
Classification
(1)
Pathogenic
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 | |||
RAI1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1895 | 2026 | |
MIR33B | - | - |
GRCh38 GRCh37 |
- | 124 | |
SREBF1 | - | - |
GRCh38 GRCh37 |
95 | 219 | |
TOM1L2 | - | - |
GRCh38 GRCh37 |
29 | 154 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 12, 2015 | RCV000235080.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022
NCBI staff reviewed the paper by Campbell et al, 2014 (PubMed 25087610). Both Table 1 (36.7 kb deletion) and Figure 1 are consistent with a range of 17,711,738–17,748,468 instead of 17,711,738–217,748,468.