ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.89G>A (p.Gly30Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590639 SCV005078171 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005038735 SCV005657875 uncertain significance Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-01-17 criteria provided, single submitter clinical testing

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