ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3198-5_3198-4dup

dbSNP: rs371047262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290953 SCV001479297 benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001725217 SCV001960480 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268466 SCV002550891 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001290953 SCV002560640 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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