ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1642-8A>G (rs267606602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000190422 SCV000781922 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000000380 SCV000020524 pathogenic Juvenile myelomonocytic leukemia 1998-07-01 no assertion criteria provided literature only
OMIM RCV000190422 SCV000244264 pathogenic Neurofibromatosis, type 1 1998-07-01 no assertion criteria provided literature only

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