ClinVar Miner

Submissions for variant NC_000010.10:g.(?_69918233)_(69926433_?)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 RCV001382816 SCV001581745 pathogenic Dilated cardiomyopathy 1KK 2022-08-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7-10 of the MYPN gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MYPN are known to be pathogenic (PMID: 28017374). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MYPN-related conditions.

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