ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) (rs148736217)

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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 RCV000129366 SCV000184130 likely benign Hereditary cancer-predisposing syndrome 2016-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034587 SCV000043392 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000214790 SCV000720772 likely benign not specified 2018-01-02 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 RCV000168053 SCV000218706 benign Neurofibromatosis, type 1 2017-12-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214790 SCV000272222 benign not specified 2017-10-10 criteria provided, single submitter clinical testing p.Pro2310Leu in exon 47 of NF1: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (52/10152) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org/; dbSNP rs148736217). ACMG/AMP Criteria applied: BA1 (Richards 2015).
PreventionGenetics RCV000034587 SCV000806304 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing

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