ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.993+10C>G

gnomAD frequency: 0.00173  dbSNP: rs201948587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514484 SCV001722347 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001514484 SCV002799448 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-05-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736941 SCV004562078 likely benign not provided 2023-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553383 SCV004768795 likely benign SEC23B-related disorder 2020-01-24 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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