ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2743-40A>G

gnomAD frequency: 0.00586  dbSNP: rs45517265
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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 RCV000247484 SCV000305185 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001556208 SCV001777744 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001556208 SCV005216988 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000043021 SCV000066819 not provided Tuberous sclerosis syndrome no assertion provided curation

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