Submissions for variant NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr)

gnomAD frequency: 0.00631  dbSNP: rs77277077

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000825666	SCV000967065	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ala1078Thr in exon 35 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 1.85% (177/9562) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs77277077).
GeneDx	RCV000844406	SCV000986457	benign	not provided	2018-04-26	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.
Invitae	RCV000844406	SCV001105461	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000825666	SCV001474846	benign	not specified	2020-07-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294385	SCV002587395	benign	Kidney disorder	2018-05-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000844406	SCV004151532	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	COL4A4: BS1, BS2
Natera, Inc.	RCV001271503	SCV001452710	benign	Alport syndrome	2020-01-05	no assertion criteria provided	clinical testing