ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)

gnomAD frequency: 0.00035  dbSNP: rs182162293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064443 SCV002437941 likely benign Imerslund-Grasbeck syndrome 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861876 SCV004126491 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CUBN: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000861876 SCV001927027 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000861876 SCV001969353 likely benign not provided no assertion criteria provided clinical testing

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