ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) (rs118203357)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163475 SCV000214030 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification,Intact protein function observed in appropriate functional assay(s)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122183 SCV000230916 benign not specified 2015-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000122183 SCV000514986 benign not specified 2015-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000122183 SCV000086400 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000234434 SCV000284703 benign Tuberous sclerosis 1 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000122183 SCV000303862 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042223 SCV000066009 not provided Tuberous sclerosis syndrome no assertion provided curation

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