ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) (rs201867031)

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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 RCV000572666 SCV000675369 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034611 SCV000043505 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000274136 SCV000478171 uncertain significance Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331374 SCV000478172 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557644 SCV000641648 benign Tuberous sclerosis 1 2018-01-02 criteria provided, single submitter clinical testing

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