Submissions for variant NM_000091.5(COL4A3):c.934-6C>A

gnomAD frequency: 0.00004  dbSNP: rs369438839

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000899032	SCV001043274	likely benign	not provided	2024-03-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502643	SCV002813771	likely benign	Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria	2021-09-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004973144	SCV005568993	likely benign	Inborn genetic diseases	2024-08-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000899032	SCV005626617	uncertain significance	not provided	2024-07-08	criteria provided, single submitter	clinical testing	In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc.	RCV001274579	SCV001458836	uncertain significance	Alport syndrome	2020-01-24	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000899032	SCV001928074	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000899032	SCV001953538	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000899032	SCV001970571	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975707	SCV004788972	likely benign	COL4A3-related disorder	2022-12-20	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).