ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)

gnomAD frequency: 0.00001  dbSNP: rs367758473
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162825 SCV000213309 likely benign Hereditary cancer-predisposing syndrome 2015-12-09 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.
Invitae RCV000204977 SCV000259668 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-17 criteria provided, single submitter clinical testing
Counsyl RCV000409135 SCV000488175 likely benign Lynch syndrome 5 2016-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162825 SCV000685343 likely benign Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing
Mendelics RCV000409135 SCV001135827 likely benign Lynch syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001582639 SCV001818076 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265639 SCV002547885 likely benign not specified 2022-05-09 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000409135 SCV004016007 likely benign Lynch syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409135 SCV004018896 benign Lynch syndrome 5 2023-03-28 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.
All of Us Research Program, National Institutes of Health RCV003995224 SCV004834389 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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