Submissions for variant NM_002439.5(MSH3):c.1887T>C (p.Tyr629=)

gnomAD frequency: 0.00193  dbSNP: rs139201310

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000898244	SCV001042441	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001013561	SCV001174166	likely benign	Hereditary cancer-predisposing syndrome	2018-10-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000898244	SCV002046915	benign	not provided	2021-04-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001013561	SCV002536004	likely benign	Hereditary cancer-predisposing syndrome	2021-04-15	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320767	SCV004024985	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922909	SCV004742231	likely benign	MSH3-related disorder	2019-12-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).