ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.*127T>C

gnomAD frequency: 0.01718  dbSNP: rs34379884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546113 SCV001765571 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055359 SCV000083579 not provided Tuberous sclerosis syndrome no assertion provided curation

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