Submissions for variant NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)

gnomAD frequency: 0.00394  dbSNP: rs147452898

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081628	SCV000113559	benign	not specified	2013-10-03	criteria provided, single submitter	clinical testing
Invitae	RCV000465530	SCV000562437	benign	Nephronophthisis	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000988240	SCV001137882	benign	Infantile nephronophthisis	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000988240	SCV001331246	likely benign	Infantile nephronophthisis	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294014	SCV002587176	likely benign	Kidney disorder	2016-12-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000988240	SCV002798182	benign	Infantile nephronophthisis	2022-04-16	criteria provided, single submitter	clinical testing