ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) (rs17881753)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130295 SCV000185143 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034581 SCV000043387 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000121631 SCV000723408 likely benign not specified 2017-10-03 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.
ITMI RCV000121631 SCV000085829 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000200179 SCV000255278 benign Neurofibromatosis, type 1 2018-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000200179 SCV000839136 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing

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