Submissions for variant NM_000506.5(F2):c.423-7G>C

dbSNP: rs2070852

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246968	SCV000304587	benign	not specified	2016-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340341	SCV000372083	likely benign	Thrombophilia due to thrombin defect	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000396449	SCV000372084	benign	Congenital prothrombin deficiency	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	RCV001682981	SCV001899149	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000396449	SCV001933841	benign	Congenital prothrombin deficiency	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000340341	SCV001933852	benign	Thrombophilia due to thrombin defect	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000396449	SCV004381515	benign	Congenital prothrombin deficiency	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682981	SCV005224270	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246968	SCV001740635	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246968	SCV001958949	benign	not specified		no assertion criteria provided	clinical testing