ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4998del (p.Pro1667fs)

dbSNP: rs1135402867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626646 SCV000747348 pathogenic Cafe-au-lait spot 2017-01-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660070 SCV000782039 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532343 SCV001747863 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000660070 SCV002560098 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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