ClinVar Miner

Submissions for variant NC_000011.10:g.(?_47335857)_(47338759_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629173 SCV000750089 pathogenic Hypertrophic cardiomyopathy 2018-05-02 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 23-26 of the MYBPC3 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 27532257, 22115648). Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.

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