ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.927_928delGG (rs886037902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000240632 SCV000299252 likely pathogenic Familial hypertrophic cardiomyopathy 4 2016-02-09 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. The variant segregates with disease in two unrelated families.
Center for Human Genetics,University of Leuven RCV000768467 SCV000886751 likely pathogenic Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing

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