ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5157del (p.Ile1719fs)

dbSNP: rs1555533382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000656741 SCV000746999 pathogenic Neurofibromatosis, type 1 2018-04-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784223 SCV002020110 likely pathogenic not provided 2021-03-20 criteria provided, single submitter clinical testing

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