ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2097+43A>G

gnomAD frequency: 0.00912  dbSNP: rs186681035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251959 SCV000305166 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833651 SCV000975415 likely benign not provided 2018-06-19 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.
Breakthrough Genomics, Breakthrough Genomics RCV000833651 SCV005216980 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000055100 SCV000083318 not provided Tuberous sclerosis syndrome no assertion provided curation

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