Submissions for variant NM_000092.5(COL4A4):c.2717-5A>T

gnomAD frequency: 0.01182  dbSNP: rs1800519

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246589	SCV000302105	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391251	SCV000428092	likely benign	Alport syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000991620	SCV000732320	benign	not provided	2018-06-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15618242)
Athena Diagnostics	RCV000991620	SCV001143234	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV001089933	SCV001245134	uncertain significance	Autosomal recessive Alport syndrome	2020-03-11	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV001089910	SCV001245143	uncertain significance	Autosomal dominant Alport syndrome; Benign familial hematuria	2020-03-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991620	SCV001719832	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294112	SCV002587268	benign	Focal segmental glomerulosclerosis	2022-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991620	SCV002821039	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL4A4: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246589	SCV001931267	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000991620	SCV001959862	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991620	SCV001967250	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000391251	SCV002078889	benign	Alport syndrome	2019-10-29	no assertion criteria provided	clinical testing