Submissions for variant NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)

gnomAD frequency: 0.00274  dbSNP: rs150979437

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241593	SCV000302104	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364192	SCV000428094	benign	Alport 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000885126	SCV000718721	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17216251, 30819905, 29098738, 12028435, 31180159)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885126	SCV001028554	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000885126	SCV001143233	benign	not provided	2018-10-26	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV001089932	SCV001245133	uncertain significance	Autosomal recessive Alport syndrome	2020-03-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000241593	SCV001365647	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Arg877Gln in exon 30 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 2.43% (208/8574) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150979437).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000885126	SCV003799783	benign	not provided	2022-03-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000885126	SCV004151536	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL4A4: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000241593	SCV005184598	likely benign	not specified	2024-05-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000241593	SCV001928726	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000885126	SCV001955157	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000241593	SCV001974003	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000364192	SCV002078891	benign	Alport syndrome	2019-11-06	no assertion criteria provided	clinical testing