ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.96C>G (p.Pro32=)

gnomAD frequency: 0.00003  dbSNP: rs757633295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152701 SCV002415494 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531425 SCV004726400 likely benign PAX2-related disorder 2019-08-09 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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