ClinVar Miner

Submissions for variant NC_000020.10:g.(?_42743436)_(42815345_?)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 RCV004579387 SCV005068140 uncertain significance Hypertrophic cardiomyopathy 2023-11-21 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the JPH2 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in JPH2 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with JPH2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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