ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6719A>G (p.His2240Arg) (rs201336602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221666 SCV000274376 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034586 SCV000043391 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034586 SCV000510829 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.

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