ClinVar Genomic variation as it relates to human health
NM_001375978.1(CHRM3):c.1017C>A (p.Asn339Lys)
Germline
Classification
(2)
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 | |||
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 147 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 15, 2022 | RCV002588227.2 | |
Uncertain significance (1) |
|
May 15, 2023 | RCV004073411.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024