ClinVar Miner

Submissions for variant NC_000007.13:g.(?_66068499)_(66098288_?)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 RCV004583537 SCV005064644 pathogenic Progressive myoclonic epilepsy type 3 2023-10-27 criteria provided, single submitter clinical testing This variant results in the deletion of exon 1 and part of exon 2 (c.-25553_171del) of the KCTD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCTD7 are known to be pathogenic (PMID: 22693283). This variant has not been reported in the literature in individuals affected with KCTD7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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