ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2097+12C>T

dbSNP: rs137854029
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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 RCV002054845 SCV002428895 likely benign Tuberous sclerosis 2 2024-11-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042448 SCV000066239 not provided Tuberous sclerosis syndrome no assertion provided curation

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