ClinVar Genomic variation as it relates to human health
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
Germline
Classification
(3)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
CRYM | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 126 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 4, 2023 | RCV003062977.2 | |
Uncertain significance (1) |
|
May 23, 2019 | RCV003138480.3 | |
Uncertain significance (1) |
|
Jul 20, 2022 | RCV004070339.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024