Submissions for variant NM_014625.4(NPHS2):c.102A>G (p.Gly34=)

gnomAD frequency: 0.94555  dbSNP: rs1079292

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247522	SCV000312198	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000605398	SCV000351508	benign	Nephrotic syndrome, type 2	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517532	SCV001726045	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001517532	SCV001830168	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000605398	SCV002029323	benign	Nephrotic syndrome, type 2	2021-09-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000247522	SCV005088071	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 95% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 88. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001517532	SCV005288608	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605398	SCV000733959	benign	Nephrotic syndrome, type 2		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000247522	SCV001927847	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247522	SCV001951618	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833276	SCV002090097	benign	Steroid-resistant nephrotic syndrome	2019-11-16	no assertion criteria provided	clinical testing