Submissions for variant NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=)

gnomAD frequency: 0.00639  dbSNP: rs116124529

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254463	SCV000302115	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000254463	SCV000711802	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Asp1321Asp in exon 41 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 3.63% (48/1322) o f African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs116124529).
GeneDx	RCV000710849	SCV000718782	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710849	SCV000841154	benign	not provided	2018-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV000710849	SCV001031838	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294116	SCV002587706	likely benign	Kidney disorder	2019-04-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000254463	SCV001977907	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000254463	SCV001979668	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001828126	SCV002078867	benign	Alport syndrome	2019-12-03	no assertion criteria provided	clinical testing