ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)

gnomAD frequency: 0.00003  dbSNP: rs201021899
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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 RCV002551582 SCV003294422 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-11-13 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV001391112 SCV001593014 likely pathogenic Renal coloboma syndrome flagged submission research PM1:Located in well-established functional domain PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease PP5:Reputable source recently reports variant as pathogenic
PreventionGenetics, part of Exact Sciences RCV004545224 SCV004769430 likely benign PAX2-related disorder 2020-01-22 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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