ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.-249_-247dup

gnomAD frequency: 0.00018  dbSNP: rs886052786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299818 SCV000401621 uncertain significance Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357030 SCV000401622 uncertain significance Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264687 SCV000401623 uncertain significance Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303704 SCV000401624 uncertain significance Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing

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