Submissions for variant NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)

gnomAD frequency: 0.00863  dbSNP: rs113825926

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245459	SCV000310586	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245459	SCV000340194	benign	not specified	2016-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953088	SCV001099638	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124717	SCV001283702	likely benign	Congenital nephrotic syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000953088	SCV001988722	benign	not provided	2021-09-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15086927, 20507940, 11317351, 20981092, 26346198, 31216994)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245459	SCV002050956	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294150	SCV002587294	likely benign	Focal segmental glomerulosclerosis	2022-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953088	SCV004810475	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	NPHS1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000953088	SCV005207026	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001275395	SCV001460544	benign	Finnish congenital nephrotic syndrome	2020-09-16	no assertion criteria provided	clinical testing