Submissions for variant NM_000092.5(COL4A4):c.680G>A (p.Arg227His)

dbSNP: rs368248078

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000518682	SCV000612977	uncertain significance	not provided	2018-04-26	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV001089929	SCV001245130	uncertain significance	Autosomal recessive Alport syndrome	2020-03-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141059	SCV001301381	uncertain significance	Alport syndrome	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000518682	SCV003456793	likely benign	not provided	2023-12-30	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000518682	SCV001951947	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000518682	SCV001966643	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001141059	SCV002084170	uncertain significance	Alport syndrome	2019-10-28	no assertion criteria provided	clinical testing