Submissions for variant NM_000091.5(COL4A3):c.144+12C>A

gnomAD frequency: 0.29027  dbSNP: rs1882435

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242242	SCV000302061	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320374	SCV000428145	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000242242	SCV000711892	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	c.144+12C>A in intron 2 of COL4A3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 45.37% (3907/8612) of East Asian chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1882435) .
Invitae	RCV001513058	SCV001720591	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527152	SCV001738084	benign	Autosomal recessive Alport syndrome	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001513058	SCV001863778	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658135	SCV001876417	benign	Autosomal dominant Alport syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242242	SCV001739622	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242242	SCV001958734	benign	not specified		no assertion criteria provided	clinical testing