ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)

dbSNP: rs1417111404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059540 SCV001224167 likely benign Tuberous sclerosis 1 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505623 SCV002815118 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-05-25 criteria provided, single submitter clinical testing

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