ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.68del (p.Ile23fs)

dbSNP: rs1057518884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414793 SCV000492821 likely pathogenic Neurofibromatosis, type 1 2015-08-31 criteria provided, single submitter clinical testing

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