ClinVar Miner

Submissions for variant NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)

gnomAD frequency: 0.00091  dbSNP: rs121918530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420077 SCV000517857 likely benign not specified 2015-07-18 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.
CeGaT Center for Human Genetics Tuebingen RCV003390664 SCV004130998 benign not provided 2022-07-01 criteria provided, single submitter clinical testing MEF2A: BP4, BS1, BS2
OMIM RCV000009506 SCV000029724 pathogenic Coronary artery disease/myocardial infarction 2004-12-15 no assertion criteria provided literature only

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