ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2837+16G>A

gnomAD frequency: 0.00001  dbSNP: rs397515095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002054887 SCV002449593 likely benign Tuberous sclerosis 2 2022-07-26 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055341 SCV000083561 not provided Tuberous sclerosis syndrome no assertion provided curation

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