ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4006-7T>G

dbSNP: rs2151520224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465963 SCV001669962 likely benign Tuberous sclerosis 2 2019-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001773751 SCV002001872 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001465963 SCV002039807 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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