ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-15G>A

dbSNP: rs372949465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429690 SCV000526205 likely benign not specified 2017-08-30 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 RCV002062752 SCV002355481 likely benign Tuberous sclerosis 2 2025-01-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002062752 SCV005404670 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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