ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1743+168A>G

gnomAD frequency: 0.00771  dbSNP: rs111951711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877909 SCV001020722 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-11-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509054 SCV001715556 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001509054 SCV001772348 likely benign not provided 2019-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25044164)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509054 SCV002049200 likely benign not provided 2023-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001509054 SCV004033880 benign not provided 2024-08-01 criteria provided, single submitter clinical testing SEC23B: BS1, BS2

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