ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5080+17T>C

gnomAD frequency: 0.00630  dbSNP: rs79034718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590886 SCV001827039 likely benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070460 SCV002407546 benign Imerslund-Grasbeck syndrome 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001590886 SCV004563856 benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001590886 SCV005226991 likely benign not provided criteria provided, single submitter not provided

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