ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5068+40G>A

gnomAD frequency: 0.00061  dbSNP: rs185211341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561917 SCV001784606 likely benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561917 SCV005217010 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000055048 SCV000083266 not provided Tuberous sclerosis syndrome no assertion provided curation

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