Submissions for variant NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn)

gnomAD frequency: 0.00745  dbSNP: rs34077552

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244695	SCV000304529	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710865	SCV000841172	benign	not provided	2017-11-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244695	SCV000967074	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Lys664Asn in exon 26 of COL4A5: This variant is not expected to have clinical significance because it has been identified in 1.47% (127/8628) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs34077552).
Invitae	RCV000710865	SCV001020605	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000021348	SCV001875866	benign	X-linked Alport syndrome	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000710865	SCV001915163	benign	not provided	2019-01-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17396119, 11462238, 8940267, 17660027)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002293988	SCV002587569	benign	Atypical hemolytic-uremic syndrome	2022-10-05	criteria provided, single submitter	clinical testing