Submissions for variant NM_001846.4(COL4A2):c.315+14G>T

gnomAD frequency: 0.02155  dbSNP: rs78713113

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000382722	SCV000382606	benign	Porencephaly 2	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001672483	SCV001883783	benign	not provided	2018-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV001672483	SCV002444623	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494972	SCV002798006	likely benign	Porencephaly 2; Hemorrhage, intracerebral, susceptibility to	2021-09-27	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795931	SCV002035860	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795931	SCV002038151	benign	not specified		no assertion criteria provided	clinical testing