ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3198-4del

dbSNP: rs371047262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290952 SCV001479288 benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001712890 SCV001946347 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268465 SCV002550895 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001290952 SCV002560642 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002268465 SCV003928894 benign not specified 2023-04-09 criteria provided, single submitter clinical testing

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