ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2976-18T>C

gnomAD frequency: 0.00001  dbSNP: rs397514866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002054884 SCV002387672 likely benign Tuberous sclerosis 1 2023-12-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000055014 SCV000083232 not provided Tuberous sclerosis syndrome no assertion provided curation

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