Submissions for variant NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)

gnomAD frequency: 0.04436  dbSNP: rs33950747

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251573	SCV000310559	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094492	SCV000411576	likely benign	Congenital nephrotic syndrome	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000277714	SCV000743921	benign	Finnish congenital nephrotic syndrome	2015-07-20	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000277714	SCV000803437	benign	Finnish congenital nephrotic syndrome	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Nephrotic syndrome, type 1, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Athena Diagnostics	RCV000712420	SCV000842912	benign	not provided	2017-08-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712420	SCV001719671	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000277714	SCV001738131	benign	Finnish congenital nephrotic syndrome	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000712420	SCV001860434	benign	not provided	2019-10-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31216994, 27884173, 9915943, 21228398, 20981092, 20507940, 11726550, 24742477)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294138	SCV002587634	benign	Atypical hemolytic-uremic syndrome	2021-10-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712420	SCV005207021	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000277714	SCV000733876	benign	Finnish congenital nephrotic syndrome		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000277714	SCV001460542	benign	Finnish congenital nephrotic syndrome	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251573	SCV001952621	benign	not specified		no assertion criteria provided	clinical testing