ClinVar Genomic variation as it relates to human health
NM_016333.4(SRRM2):c.7199C>T (p.Pro2400Leu)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
SRRM2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
463 | 514 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 25, 2022 | RCV002840859.2 | |
Likely benign (1) |
|
Oct 1, 2023 | RCV003410178.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024