ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.231A>C (p.Ala77=)

dbSNP: rs2151026046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438643 SCV001641522 likely benign Tuberous sclerosis 2 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001664878 SCV001873760 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001438643 SCV002041193 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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