ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) (rs371225009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085260 SCV000284737 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719387 SCV000850253 likely benign History of neurodevelopmental disorder 2018-01-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232948 SCV001155802 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing

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