ClinVar Miner

Submissions for variant NM_020401.4(NUP107):c.72G>A (p.Arg24=)

dbSNP: rs2259588
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693796 SCV001914666 benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788799 SCV002029645 benign Galloway-Mowat syndrome 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788798 SCV002029656 benign Nephrotic syndrome, type 11 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001693796 SCV002433711 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594528 SCV005087819 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 34% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 32. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001693796 SCV005231295 benign not provided criteria provided, single submitter not provided

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