ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.*4T>C (rs201044568)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163803 SCV000214386 benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Other data supporting benign classification
Genetic Services Laboratory, University of Chicago RCV000499461 SCV000595978 likely benign not specified 2016-06-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374635 SCV000401817 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000196409 SCV000401818 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315760 SCV000401819 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372677 SCV000401820 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000196409 SCV000252674 benign Neurofibromatosis, type 1 2015-08-16 criteria provided, single submitter clinical testing

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