Submissions for variant NM_014625.4(NPHS2):c.-51G>T

gnomAD frequency: 0.23878  dbSNP: rs12406197

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000210804	SCV000351511	benign	Nephrotic syndrome, type 2	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001513259	SCV001720851	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000210804	SCV001737189	benign	Nephrotic syndrome, type 2	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001513259	SCV001950627	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16900088, 30793612)
Mendelics	RCV001354810	SCV002517764	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294081	SCV002587243	benign	Focal segmental glomerulosclerosis	2022-09-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982952	SCV004800158	benign	NPHS2-related disorder	2021-02-23	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001354810	SCV005087717	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 41% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 38. Only high quality variants are reported.
Human Genetics Disease in Children – Taif University, Taif University	RCV000210804	SCV000266492	likely pathogenic	Nephrotic syndrome, type 2	2016-01-01	flagged submission	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354810	SCV001549515	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001354810	SCV001932719	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001354810	SCV001952503	benign	not specified		no assertion criteria provided	clinical testing