ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4493+16C>G

gnomAD frequency: 0.00012  dbSNP: rs45491597
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252923 SCV000305221 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252923 SCV000515047 likely benign not specified 2016-09-29 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000252923 SCV001158517 likely benign not specified 2019-06-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797606 SCV002039477 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504931 SCV002806317 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043056 SCV000066855 not provided Tuberous sclerosis syndrome no assertion provided curation

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