ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) (rs137854555)

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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 RCV000660063 SCV000782031 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000000378 SCV000020522 pathogenic Juvenile myelomonocytic leukemia 1997-06-12 no assertion criteria provided literature only

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