ClinVar Miner

Submissions for variant GRCh37/hg19 17q11.2(chr17:29000019-30416429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV004557255 SCV005044664 pathogenic Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis criteria provided, single submitter clinical testing

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