ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)

dbSNP: rs397515246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005016354 SCV005644995 likely pathogenic Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2024-05-22 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055558 SCV000083782 not provided Tuberous sclerosis syndrome no assertion provided curation
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001824119 SCV002073928 pathogenic Tuberous sclerosis 2 2022-02-08 no assertion criteria provided clinical testing

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