ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.233T>C (p.Val78Ala)

gnomAD frequency: 0.00001  dbSNP: rs1163221525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796282 SCV000935788 benign Tuberous sclerosis 2 2022-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495047 SCV002797105 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-07-08 criteria provided, single submitter clinical testing

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