Submissions for variant NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)

gnomAD frequency: 0.01995  dbSNP: rs75519005

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247855	SCV000302068	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401257	SCV000428172	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247855	SCV000711829	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Pro905Pro in exon 33 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 6.09% (596/9794) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs75519005).
GeneDx	RCV000843489	SCV000985524	benign	not provided	2018-04-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000843489	SCV001115414	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247855	SCV001338135	benign	not specified	2020-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000247855	SCV001476979	benign	not specified	2024-06-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294098	SCV002587587	benign	Atypical hemolytic-uremic syndrome	2022-08-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000843489	SCV005259025	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000401257	SCV001456034	benign	Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing