ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2003468)_(2126543_?)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 RCV001949704 SCV002243947 pathogenic Tuberous sclerosis 2 2020-11-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant results in the deletion of exon(s) 1-24 and part of exon 25 (c.-94626_2796del) of the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).

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