Submissions for variant NM_000179.3(MSH6):c.3153A>G (p.Val1051=)

dbSNP: rs1057521587

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000418684	SCV000523682	likely benign	not specified	2016-01-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000775876	SCV000910354	likely benign	Hereditary cancer-predisposing syndrome	2018-09-04	criteria provided, single submitter	clinical testing
Mendelics	RCV000986729	SCV001135830	likely benign	Lynch syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000775876	SCV001180121	likely benign	Hereditary cancer-predisposing syndrome	2018-09-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001475130	SCV001679318	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000775876	SCV002535795	likely benign	Hereditary cancer-predisposing syndrome	2021-12-28	criteria provided, single submitter	curation