ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) (rs753932484)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189992 SCV000243663 likely benign not specified 2017-05-09 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 RCV000535602 SCV000644296 likely benign not provided 2018-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566813 SCV000675617 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GenomeConnect, ClinGen RCV000509149 SCV000606942 not provided Tuberous sclerosis syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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