Submissions for variant NM_000129.4(F13A1):c.-19+12A>C

gnomAD frequency: 0.88252  dbSNP: rs2815822

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000400235	SCV000464382	benign	Factor XIII, A subunit, deficiency of	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.
GeneDx	RCV001618649	SCV001846497	benign	not provided	2021-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21512576, 23508224)
Genome-Nilou Lab	RCV000400235	SCV001933796	benign	Factor XIII, A subunit, deficiency of	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530029	SCV001744535	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001530029	SCV001955046	benign	not specified		no assertion criteria provided	clinical testing