ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2793A>G (p.Leu931=)

gnomAD frequency: 0.00186  dbSNP: rs34987997
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116820 SCV000150894 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
Invitae RCV000615583 SCV000760130 benign Deficiency of ferroxidase 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000615583 SCV001311604 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 RCV000116820 SCV001825917 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000116820 SCV002497231 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CP: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615583 SCV000734247 likely benign Deficiency of ferroxidase no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000116820 SCV001808615 likely benign not provided no assertion criteria provided clinical testing

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