ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.458-17A>G

gnomAD frequency: 0.00001  dbSNP: rs554847828
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662516 SCV000785060 likely benign Lynch syndrome 5 2017-03-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774587 SCV000908346 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854287 SCV002116970 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774587 SCV002637028 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 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. RCV000662516 SCV004019051 uncertain significance Lynch syndrome 5 2023-03-29 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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