ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) (rs137854168)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080839 SCV000285266 benign Tuberous sclerosis 2 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000231071 SCV000518099 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28385778)
Ambry Genetics RCV000576038 SCV000675464 likely benign Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000231071 SCV001150699 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000231071 SCV001476296 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing

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