ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2221-28A>G

gnomAD frequency: 0.11019  dbSNP: rs7196184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247313 SCV000305168 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830082 SCV000971817 benign not provided 2018-06-14 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.
Tuberous sclerosis database (TSC2) RCV000042865 SCV000066661 not provided Tuberous sclerosis syndrome no assertion provided curation

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