ClinVar Miner

Submissions for variant NC_000023.10:g.(?_85302494)_(85308932_?)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 RCV001951477 SCV002241436 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 (c.-6396_43del) of the CHM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHM-related conditions.

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