ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala)

dbSNP: rs1279109316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054991 SCV001219355 benign Tuberous sclerosis 2 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481995 SCV002792404 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-10 criteria provided, single submitter clinical testing

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