ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.730+16dup

gnomAD frequency: 0.00001  dbSNP: rs373999174
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389208 SCV000401697 uncertain significance Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294916 SCV000401698 uncertain significance Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349802 SCV000401699 uncertain significance Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395451 SCV000401700 uncertain significance Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000481991 SCV000571937 likely benign not provided 2016-10-05 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.

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