ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.217T>C (p.Leu73=)

dbSNP: rs2132239282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001391740 SCV001593367 likely benign Tuberous sclerosis 1 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499823 SCV002806565 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-08-30 criteria provided, single submitter clinical testing

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