ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) (rs376285784)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085948 SCV000816356 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000688733 SCV001150693 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011980 SCV001172375 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence;Other data supporting pathogenic classification
Tuberous sclerosis database (TSC2) RCV000055200 SCV000083418 not provided Tuberous sclerosis syndrome no assertion provided curation

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