ClinVar Miner

Submissions for variant NM_003906.5(MCM3AP):c.2931T>C (p.His977=)

gnomAD frequency: 0.47408  dbSNP: rs2839181
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454481 SCV000539598 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001536242 SCV001752971 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001536242 SCV002402786 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536242 SCV005276643 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000454481 SCV001978978 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000454481 SCV001979435 benign not specified no assertion criteria provided clinical testing

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