ClinVar Miner

Submissions for variant NC_000011.9:g.(?_47358759)_(47367816_?)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 RCV004580116 SCV005062624 likely pathogenic Hypertrophic cardiomyopathy 2019-04-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant has not been reported in the literature in individuals with MYBPC3-related conditions. This variant is a deletion of the genomic region encompassing exons 13-25 and part of exon 12 (c.1037_2602+186del) of the MYBPC3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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