Submissions for variant NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)

gnomAD frequency: 0.00008  dbSNP: rs150305490

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591165	SCV000704707	uncertain significance	not provided	2016-12-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000591165	SCV001097576	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001449946	SCV001653436	likely benign	X-linked Alport syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000591165	SCV001753491	likely benign	not provided	2020-02-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000591165	SCV004167394	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL4A5: BP4, BS2
Natera, Inc.	RCV001449946	SCV002081358	likely benign	X-linked Alport syndrome	2019-10-28	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905531	SCV004723043	likely benign	COL4A5-related disorder	2023-01-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).