Submissions for variant NM_001845.6(COL4A1):c.651+4_651+5insCAC

gnomAD frequency: 0.00087  dbSNP: rs760194800

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV002248592	SCV000382532	likely benign	Brain small vessel disease 1 with or without ocular anomalies	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296487	SCV000382533	likely benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351415	SCV000382534	likely benign	Porencephalic cyst	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951635	SCV001098049	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000951635	SCV002013261	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000951635	SCV002563181	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	COL4A1: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004544546	SCV004785494	likely benign	COL4A1-related disorder	2020-01-07	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).