ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) (rs587778722)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562597 SCV000675427 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000122188 SCV000521665 likely benign not specified 2016-03-10 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 RCV000122188 SCV000086405 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000475364 SCV000552257 benign Tuberous sclerosis 1 2018-01-10 criteria provided, single submitter clinical testing

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