Submissions for variant NM_000096.4(CP):c.2286-12T>G

gnomAD frequency: 0.01016  dbSNP: rs183671127

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000357126	SCV000441625	benign	Deficiency of ferroxidase	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.
Invitae	RCV000357126	SCV001720645	benign	Deficiency of ferroxidase	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001559559	SCV001781811	likely benign	not provided	2021-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001559559	SCV001809216	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001725173	SCV001960009	benign	not specified		no assertion criteria provided	clinical testing