ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4005+17G>A

gnomAD frequency: 0.00001  dbSNP: rs1346482272
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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 RCV002098176 SCV002388811 likely benign Tuberous sclerosis 2 2022-10-05 criteria provided, single submitter clinical testing

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