ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1992C>T (p.Phe664=)

dbSNP: rs777450803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774577 SCV000908321 likely benign Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396078 SCV001597798 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774577 SCV002717598 likely benign Hereditary cancer-predisposing syndrome 2020-06-20 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.
Myriad Genetics, Inc. RCV005249058 SCV005897288 benign Lynch syndrome 1 2024-12-11 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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