ClinVar Miner

Submissions for variant NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr)

gnomAD frequency: 0.00858  dbSNP: rs3087450
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604524 SCV000717792 benign not specified 2018-01-31 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.
Athena Diagnostics Inc RCV000712272 SCV000842722 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV000712272 SCV001103562 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712272 SCV004011486 benign not provided 2023-04-01 criteria provided, single submitter clinical testing MCM2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003980142 SCV004786785 benign MCM2-related condition 2019-09-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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