Submissions for variant NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)

gnomAD frequency: 0.02854  dbSNP: rs76868679

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153381	SCV000202867	benign	not specified	2014-04-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153381	SCV000312179	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095356	SCV000475971	benign	Infantile nephronophthisis	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000342905	SCV000562442	benign	Nephronophthisis	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706023	SCV001848776	benign	not provided	2020-05-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294048	SCV002587295	benign	Kidney disorder	2019-03-01	criteria provided, single submitter	clinical testing