ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2743-19G>A

dbSNP: rs539121865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436503 SCV000515034 benign not specified 2015-05-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061554 SCV002475585 benign Tuberous sclerosis 2 2025-01-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061554 SCV005406015 likely benign Tuberous sclerosis 2 2024-08-13 criteria provided, single submitter clinical testing This variant is considered likely 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002061554 SCV005880414 benign Tuberous sclerosis 2 2025-02-01 criteria provided, single submitter clinical testing

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