ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.213-8C>T

gnomAD frequency: 0.00101  dbSNP: rs369615430
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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 RCV000878299 SCV001021180 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000878299 SCV002795061 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541770 SCV004761582 likely benign PAX2-related disorder 2020-03-27 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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