Submissions for variant NM_001845.6(COL4A1):c.1725G>A (p.Ser575=)

gnomAD frequency: 0.00016  dbSNP: rs370332353

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000946257	SCV001092372	likely benign	not provided	2023-12-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000946257	SCV001149088	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	COL4A1: BP4, BP7
GeneDx	RCV000946257	SCV002031200	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533, 26582918)
PreventionGenetics, part of Exact Sciences	RCV003925865	SCV004741724	likely benign	COL4A1-related condition	2019-05-22	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000946257	SCV002036155	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796823	SCV002037964	benign	not specified		no assertion criteria provided	clinical testing