ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3777T>C (p.Asn1259=)

dbSNP: rs1572745180
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021111 SCV001182687 likely benign Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001399408 SCV001601198 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001675981 SCV001892155 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492208 SCV004239320 likely benign Breast and/or ovarian cancer 2023-06-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001021111 SCV004357758 likely benign Hereditary cancer-predisposing syndrome 2022-12-05 criteria provided, single submitter clinical testing

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