ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer)

dbSNP: rs886037901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV000240644 SCV000299250 pathogenic Hypertrophic cardiomyopathy 4 2016-01-01 criteria provided, single submitter clinical testing This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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