ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.43+10G>C

dbSNP: rs4472867
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080359 SCV000112255 benign not specified 2013-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080359 SCV000309906 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514012 SCV001721749 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711236 SCV001946311 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787886 SCV002029384 benign Focal segmental glomerulosclerosis 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000608368 SCV002029385 benign Renal coloboma syndrome 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000080359 SCV005087937 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 97% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 90. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001711236 SCV005320037 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608368 SCV000732902 benign Renal coloboma syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080359 SCV001928005 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080359 SCV001959205 benign not specified no assertion criteria provided clinical testing

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