ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.453G>A (p.Pro151=)

dbSNP: rs199876625
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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 RCV001472369 SCV001676499 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004571017 SCV005051318 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing PAX2: BP4, BP7

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