ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.909A>C (p.Pro303=)

gnomAD frequency: 0.40586  dbSNP: rs1800898
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247276 SCV000309908 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510483 SCV001717526 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000144384 SCV001875460 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788040 SCV002029388 benign Focal segmental glomerulosclerosis 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000612081 SCV002029389 benign Renal coloboma syndrome 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000247276 SCV005087757 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 39% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 36. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000144384 SCV005320049 benign not provided criteria provided, single submitter not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144384 SCV000189508 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612081 SCV000732904 benign Renal coloboma syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000247276 SCV001929549 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000247276 SCV001951019 benign not specified no assertion criteria provided clinical testing

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