ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) (rs199755731)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163280 SCV000213808 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034606 SCV000043510 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000515239 SCV000611436 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000189870 SCV000243523 likely benign not specified 2017-06-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000317696 SCV000478215 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374525 SCV000478216 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230161 SCV000284693 benign Tuberous sclerosis 1 2017-12-22 criteria provided, single submitter clinical testing

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