ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) (rs118203543)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122191 SCV000243462 benign not specified 2017-09-12 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 RCV000464379 SCV000562474 benign Tuberous sclerosis 1 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567091 SCV000675388 likely benign Hereditary cancer-predisposing syndrome 2018-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Tuberous sclerosis database (TSC1) RCV000042044 SCV000065827 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122191 SCV000086409 not provided not specified 2013-09-19 no assertion provided reference population

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