ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-14T>C

gnomAD frequency: 0.00001  dbSNP: rs780658386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002097446 SCV002382052 likely benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494180 SCV002799368 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-04-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005347 SCV004827364 likely benign Tuberous sclerosis syndrome 2023-07-22 criteria provided, single submitter clinical testing

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