ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7259-17C>T (rs17884859)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000252088 SCV000604516 benign not specified 2016-12-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000417936 SCV000511093 benign not provided 2017-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000417936 SCV000521067 benign not provided 2017-09-25 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 RCV000204072 SCV000261682 benign Neurofibromatosis, type 1 2016-03-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000252088 SCV000539887 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, gene associated with neurofibromatosis
PreventionGenetics RCV000252088 SCV000306294 benign not specified criteria provided, single submitter clinical testing

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