ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.*2638_*2646delinsTTATG

dbSNP: rs886052813
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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 RCV000299473 SCV000401913 uncertain significance Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368075 SCV000401914 uncertain significance Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273580 SCV000401915 uncertain significance Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314488 SCV000401916 uncertain significance Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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