ClinVar Genomic variation as it relates to human health
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile)
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 | |||
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1723 | 2050 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 1, 2022 | RCV003177729.1 | |
Uncertain significance (1) |
|
Jan 25, 2024 | RCV003641073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024