ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1393-2A>G (rs1555612266)

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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 RCV000582848 SCV000781906 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582848 SCV000692342 pathogenic Neurofibromatosis, type 1 2014-10-06 no assertion criteria provided clinical testing

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