Submissions for variant NM_004646.4(NPHS1):c.1930+12G>A

gnomAD frequency: 0.01172  dbSNP: rs528950

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246344	SCV000310563	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001125638	SCV001284731	likely benign	Congenital nephrotic syndrome	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523750	SCV001733520	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001523750	SCV002576045	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Natera, Inc.	RCV001828143	SCV002087081	benign	Finnish congenital nephrotic syndrome	2019-12-05	no assertion criteria provided	clinical testing