ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)

dbSNP: rs727503266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853170 SCV000995884 likely pathogenic Left ventricular noncompaction cardiomyopathy criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001093024 SCV001249812 pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing

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