ClinVar Genomic variation as it relates to human health
NM_001040108.2(MLH3):c.2347A>C (p.Ser783Arg)
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 | |||
MLH3 | - | - |
GRCh38 GRCh37 |
2586 | 2615 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 12, 2023 | RCV003101748.3 | |
Uncertain significance (1) |
|
May 16, 2024 | RCV004063232.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024