Submissions for variant NM_000096.4(CP):c.2522C>G (p.Thr841Arg)

gnomAD frequency: 0.00435  dbSNP: rs56033670

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000373153	SCV000337659	likely benign	not specified	2016-01-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000373153	SCV000594206	likely benign	not specified	2019-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV000860799	SCV001000955	benign	Deficiency of ferroxidase	2024-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001091204	SCV001247096	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CP: BS2
Illumina Laboratory Services, Illumina	RCV000860799	SCV001307079	likely benign	Deficiency of ferroxidase	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001091204	SCV001859917	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000860799	SCV002797520	likely benign	Deficiency of ferroxidase	2021-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920084	SCV004734285	benign	CP-related condition	2021-03-26	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001091204	SCV001739611	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000373153	SCV001807557	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001091204	SCV001973134	likely benign	not provided		no assertion criteria provided	clinical testing