Submissions for variant NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)

gnomAD frequency: 0.03239  dbSNP: rs61735627

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250286	SCV000304536	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710875	SCV000841183	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000250286	SCV000966284	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly1173Gly in exon 39 of COL4A5: 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 12.25% (794/6480) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs61735627).
Invitae	RCV000710875	SCV001727462	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000710875	SCV001863018	benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294119	SCV002587454	benign	Kidney disorder	2021-11-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274533	SCV001458775	benign	X-linked Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000250286	SCV001927226	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000710875	SCV001952436	likely benign	not provided		no assertion criteria provided	clinical testing