ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1717G>A (p.Ala573Thr)

gnomAD frequency: 0.00002  dbSNP: rs200766962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205500 SCV000259711 benign Hereditary nonpolyposis colorectal neoplasms 2023-10-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771217 SCV000903297 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771217 SCV001173367 benign Hereditary cancer-predisposing syndrome 2023-03-10 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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034551 SCV000043341 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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