ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.74C>A (p.Pro25His) (rs6045440)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153925 SCV000203542 uncertain significance not provided 2014-03-10 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490449 SCV000267494 uncertain significance Congenital dyserythropoietic anemia, type II 2016-03-18 criteria provided, single submitter reference population
Invitae RCV001082004 SCV001098657 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000490449 SCV001141224 uncertain significance Congenital dyserythropoietic anemia, type II 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002127 SCV001159979 uncertain significance not specified 2019-03-25 criteria provided, single submitter clinical testing

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