Submissions for variant NM_000091.5(COL4A3):c.222G>T (p.Pro74=)

gnomAD frequency: 0.00096  dbSNP: rs187950806

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000948255	SCV000718774	benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17216251, 14582039)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000948255	SCV001094455	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000948255	SCV001143220	benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138281	SCV001298322	likely benign	Alport syndrome	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.
CeGaT Center for Human Genetics Tuebingen	RCV000948255	SCV001746408	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL4A3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000948255	SCV005259004	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891830	SCV000302066	benign	COL4A3-related disorder	2021-05-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252105	SCV001952817	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000948255	SCV001974189	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000948255	SCV001977927	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001138281	SCV002076374	benign	Alport syndrome	2019-12-03	no assertion criteria provided	clinical testing