ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.730+32del

dbSNP: rs71142032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507873 SCV000604507 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001584225 SCV001811374 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000507873 SCV002550887 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000507873 SCV001806903 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000507873 SCV001906092 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000507873 SCV002035398 benign not specified no assertion criteria provided clinical testing

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