ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro)

dbSNP: rs1555614226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UAB Medical Genomics Laboratory, UAB Medicine RCV000856624 SCV000999170 pathogenic Neurofibromatosis, type 1 2019-06-05 criteria provided, single submitter clinical testing

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