ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)

dbSNP: rs1555612859
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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, Center for Human Genetics, Inc RCV000659994 SCV000781919 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000659994 SCV001478920 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000659994 SCV002561681 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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