ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.775-12T>C

gnomAD frequency: 0.00001  dbSNP: rs753920940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649792 SCV001867271 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073020 SCV002373611 likely benign Tuberous sclerosis 2 2025-01-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002073020 SCV005406212 benign Tuberous sclerosis 2 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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