ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1099C>T (p.Arg367Cys) (rs34624984)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116815 SCV000150889 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000321771 SCV000441647 likely benign Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000321771 SCV000636870 benign Deficiency of ferroxidase 2017-05-12 criteria provided, single submitter clinical testing

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