ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1512-10G>T

gnomAD frequency: 0.00002  dbSNP: rs770601333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539253 SCV001020712 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-10-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001163 SCV001158314 uncertain significance not specified 2019-03-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549995 SCV004783454 likely benign SEC23B-related disorder 2021-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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