Submissions for variant NM_000251.3(MSH2):c.1387-5T>C

dbSNP: rs757458333

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229877	SCV000284109	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574158	SCV000669728	likely benign	Hereditary cancer-predisposing syndrome	2020-11-23	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.
GeneDx	RCV000604134	SCV000718479	likely benign	not specified	2017-04-13	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	RCV000574158	SCV001345413	likely benign	Hereditary cancer-predisposing syndrome	2019-01-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574158	SCV002528844	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-11	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV005246881	SCV005896214	likely benign	Lynch syndrome 1	2024-12-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.