ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2838-13C>T

gnomAD frequency: 0.00001  dbSNP: rs1419094468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003513320 SCV004279577 likely benign Tuberous sclerosis 2 2024-12-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003513320 SCV005407515 benign Tuberous sclerosis 2 2024-09-09 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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