Submissions for variant NM_000096.4(CP):c.2611G>A (p.Asp871Asn)

gnomAD frequency: 0.00001  dbSNP: rs529607771

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000364282	SCV000441619	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514945	SCV000609914	uncertain significance	not provided	2017-02-22	criteria provided, single submitter	clinical testing
Invitae	RCV000364282	SCV001101788	benign	Deficiency of ferroxidase	2023-12-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912452	SCV004728303	benign	CP-related condition	2020-04-02	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).