ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2410-13A>G (rs1567848711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory,Department of Genetics UAB RCV000991071 SCV001167422 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Institute of Human Genetics,Cologne University RCV000991071 SCV001134954 uncertain significance Neurofibromatosis, type 1 no assertion criteria provided clinical testing

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