ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2662-12T>C

gnomAD frequency: 0.33387  dbSNP: rs16861582
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174988 SCV000226403 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401732 SCV000441617 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000401732 SCV001729238 benign Deficiency of ferroxidase 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651040 SCV001869903 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651040 SCV005303181 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000174988 SCV001808664 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000174988 SCV001953221 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000174988 SCV001973967 benign not specified no assertion criteria provided clinical testing

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