ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-16C>T

gnomAD frequency: 0.00001  dbSNP: rs45517191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600652 SCV000727000 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002054850 SCV002370315 benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496676 SCV002801647 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042879 SCV000066675 not provided Tuberous sclerosis syndrome no assertion provided curation

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