ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2522C>G (p.Thr841Arg) (rs56033670)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-11-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091204 SCV001247096 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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
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

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