Submissions for variant NM_001845.6(COL4A1):c.1466-6C>T

gnomAD frequency: 0.00149  dbSNP: rs183563055

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176471	SCV000228133	uncertain significance	not provided	2014-12-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002247584	SCV000382481	benign	Brain small vessel disease 1 with or without ocular anomalies	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.
Illumina Laboratory Services, Illumina	RCV000329042	SCV000382482	likely benign	Porencephalic cyst	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383787	SCV000382483	benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures 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.
Invitae	RCV000176471	SCV001091946	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000176471	SCV001794645	likely benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000176471	SCV002563177	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL4A1: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003907586	SCV004725669	benign	COL4A1-related condition	2020-01-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).