ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)

dbSNP: rs112061448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664114 SCV000787566 likely benign Monogenic diabetes 2017-09-01 criteria provided, single submitter research ACMG Criteria:PP3 (7 predictors), BP4 (3 predictors), BS2 (5 cases and 5 controls in T2DM)
Labcorp Genetics (formerly Invitae), Labcorp RCV002060805 SCV002388270 likely benign not provided 2023-10-28 criteria provided, single submitter clinical testing
New York Genome Center RCV002467981 SCV002764439 uncertain significance Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 2021-10-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235333 SCV003934780 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938017 SCV004755369 likely benign PAX4-related disorder 2022-04-14 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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