Submissions for variant NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)

gnomAD frequency: 0.00155  dbSNP: rs143945573

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514291	SCV000610944	likely benign	not provided	2017-04-10	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514291	SCV000841179	benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729024	SCV000856658	benign	not specified	2017-09-19	criteria provided, single submitter	clinical testing
Invitae	RCV000514291	SCV001101772	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000514291	SCV001851104	benign	not provided	2020-07-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506246	SCV002808230	likely benign	X-linked Alport syndrome	2022-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962422	SCV004781841	benign	COL4A5-related condition	2020-02-05	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).