ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)

gnomAD frequency: 0.00001  dbSNP: rs1475672414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819530 SCV000960195 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001766732 SCV001989349 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000819530 SCV002040580 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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