Submissions for variant NM_001845.6(COL4A1):c.903+18G>A

gnomAD frequency: 0.56804  dbSNP: rs482757

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251207	SCV000308135	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000251207	SCV000715673	benign	not specified	2017-07-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515216	SCV001723237	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589251	SCV001822137	benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002248491	SCV001822138	benign	Brain small vessel disease 1 with or without ocular anomalies	2021-07-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515216	SCV005229129	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251207	SCV001742367	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251207	SCV001953878	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000251207	SCV001971165	benign	not specified		no assertion criteria provided	clinical testing