ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.43+43C>A

gnomAD frequency: 0.37380  dbSNP: rs4405241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666283 SCV001883640 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788718 SCV002029386 benign Focal segmental glomerulosclerosis 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788717 SCV002029387 benign Renal coloboma syndrome 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594471 SCV005087409 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 73% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 68. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001666283 SCV005320038 benign not provided criteria provided, single submitter not provided

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