Submissions for variant NM_001845.6(COL4A1):c.3326-13dup

dbSNP: rs139122216

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368882	SCV000382394	likely benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002248557	SCV000382395	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	RCV000320110	SCV000382396	likely benign	Porencephalic cyst	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514962	SCV000610060	likely benign	not provided	2017-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514962	SCV001020960	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000514962	SCV001815453	likely benign	not provided	2024-05-28	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Athena Diagnostics	RCV001660620	SCV001879784	benign	not specified	2020-11-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504075	SCV002811255	likely benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	2021-08-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514962	SCV004135598	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	COL4A1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004537759	SCV004749550	benign	COL4A1-related disorder	2022-02-08	no assertion criteria provided	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).