ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3172+20T>C

gnomAD frequency: 0.00009  dbSNP: rs3136335
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126830 SCV000170358 benign not specified 2014-02-11 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 RCV000580890 SCV000685358 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000126830 SCV000805878 benign not specified 2017-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055679 SCV002430015 benign Hereditary nonpolyposis colorectal neoplasms 2025-02-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000126830 SCV002552322 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580890 SCV002610026 benign Hereditary cancer-predisposing syndrome 2019-09-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002477336 SCV002798768 likely benign Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 2022-05-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149865 SCV003837649 benign Breast and/or ovarian cancer 2021-07-19 criteria provided, single submitter clinical testing

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