ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1A>C (p.Met1Leu)

dbSNP: rs1060500252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001172240 SCV000999060 likely pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV001172240 SCV003840143 likely pathogenic Neurofibromatosis, type 1 no assertion criteria provided research

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