ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2110656)_(2115646_?)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 RCV004582675 SCV005062265 pathogenic Tuberous sclerosis 2 2023-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the TSC2 gene that includes exon(s) 16 has been determined to be clinically significant (PMID: 16114042, 21520333, 25782670). Therefore, deletions that encompass that region are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 11-16 of the TSC2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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