ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2378G>A (p.Arg793His)

gnomAD frequency: 0.01026  dbSNP: rs115552500
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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 RCV000116818 SCV000150892 benign not specified 2013-11-04 criteria provided, single submitter clinical testing
Invitae RCV000531835 SCV000636877 benign Deficiency of ferroxidase 2021-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000531835 SCV001307082 likely benign Deficiency of ferroxidase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001636660 SCV001849096 benign not provided 2020-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15557511, 25758665, 26000822, 16150804)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116818 SCV002050850 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000116818 SCV001809458 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001636660 SCV001952764 likely benign not provided no assertion criteria provided clinical testing

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