ClinVar Miner

Submissions for variant NC_000005.9:g.(?_140052489)_(140072312_?)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 RCV001338626 SCV001532310 uncertain significance Usher syndrome type 3B 2022-07-05 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with HARS-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the HARS gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS 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.

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