ClinVar Miner

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

gnomAD frequency: 0.00050  dbSNP: rs6045440
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 2024-01-26 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 RCV000153925 SCV001159979 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335411 SCV001528555 uncertain significance Cowden syndrome 7 2018-05-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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