Submissions for variant NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)

gnomAD frequency: 0.00479  dbSNP: rs145806603

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597600	SCV000705835	benign	not specified	2017-02-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710834	SCV000841139	benign	not provided	2017-11-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000597600	SCV000967068	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly611Gly in exon 25 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.69% (449/65490) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs145806603).
GeneDx	RCV000710834	SCV000981657	benign	not provided	2018-05-04	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	RCV000710834	SCV001097423	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142816	SCV001303300	likely benign	Alport syndrome	2018-01-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000710834	SCV002544217	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	COL4A4: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294353	SCV002587204	likely benign	Kidney disorder	2020-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491202	SCV002795099	benign	Autosomal recessive Alport syndrome; Benign familial hematuria	2021-09-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710834	SCV005258984	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000597600	SCV001929944	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000710834	SCV001958587	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710834	SCV001965827	likely benign	not provided		no assertion criteria provided	clinical testing