ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) (rs118203553)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569644 SCV000675394 likely benign Hereditary cancer-predisposing syndrome 2018-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034603 SCV000043514 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000421357 SCV000514998 likely benign not specified 2015-06-19 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 RCV000642096 SCV000763749 benign Tuberous sclerosis 1 2017-12-24 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054849 SCV000065839 not provided Tuberous sclerosis syndrome no assertion provided curation

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