ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) (rs397514880)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570274 SCV000675351 likely benign Hereditary cancer-predisposing syndrome 2018-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence,Intact protein function observed in appropriate functional assay(s),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000189812 SCV000334328 likely benign not specified 2015-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000189812 SCV000243463 likely benign not specified 2017-10-20 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.
Invitae RCV000226919 SCV000284681 benign Tuberous sclerosis 1 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000189812 SCV000303849 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000055039 SCV000083257 not provided Tuberous sclerosis syndrome no assertion provided curation

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