ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3975-11T>G

dbSNP: rs1597734976
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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 RCV001007748 SCV001167426 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing

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