ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-15G>T

gnomAD frequency: 0.00006  dbSNP: rs372949465
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189893 SCV000243549 benign not specified 2014-09-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054241 SCV002467069 likely benign Tuberous sclerosis 2 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492874 SCV002795242 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003996864 SCV004360869 likely benign Tuberous sclerosis syndrome 2022-11-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996864 SCV004823411 likely benign Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing

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