ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1568+3A>G

gnomAD frequency: 0.00003  dbSNP: rs923864884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012169 SCV001172592 likely benign Hereditary cancer-predisposing syndrome 2023-04-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001070044 SCV001235252 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001070044 SCV005627051 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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