ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.509-9C>G

dbSNP: rs1275897593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001469589 SCV001673669 likely benign Tuberous sclerosis 1 2020-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501625 SCV002809016 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-05-19 criteria provided, single submitter clinical testing

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