ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) (rs372321790)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477108 SCV000556682 benign not provided 2018-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573567 SCV000664696 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Mendelics RCV000989413 SCV001139735 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055443 SCV000083664 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000055443 SCV000190664 likely benign Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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