Submissions for variant NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)

gnomAD frequency: 0.01005  dbSNP: rs117412802

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000989166	SCV000382671	benign	Porencephaly 2	2018-03-06	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000439782	SCV000511496	likely benign	not provided	2017-01-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Mendelics	RCV000989166	SCV001139386	benign	Porencephaly 2	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000439782	SCV001882164	benign	not provided	2018-09-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32172663, 22209247, 25719457, 24390199)
Invitae	RCV000439782	SCV002405802	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000439782	SCV002585456	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL4A2: BS1, BS2
OMIM	RCV000022469	SCV000043758	risk factor	Hemorrhage, intracerebral, susceptibility to	2012-01-13	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000439782	SCV001931424	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727516	SCV001974677	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000439782	SCV002035714	likely benign	not provided		no assertion criteria provided	clinical testing