ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs)

dbSNP: rs1555533552
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Total submissions: 1
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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 RCV000581394 SCV000692358 pathogenic Neurofibromatosis, type 1 2017-08-08 no assertion criteria provided clinical testing

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