ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4935del (p.Pro1646fs) (rs1135402867)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660070 SCV000782039 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626646 SCV000747348 pathogenic Cafe-au-lait spot 2017-01-01 criteria provided, single submitter clinical testing

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