ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-12CT[3]

dbSNP: rs769094940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707787 SCV000721560 likely benign not provided 2022-12-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV002063967 SCV002395164 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255471 SCV002530989 likely benign Hereditary cancer-predisposing syndrome 2020-11-24 criteria provided, single submitter curation

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