ClinVar Miner

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

gnomAD frequency: 0.01447  dbSNP: rs34624984
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321771 SCV000441647 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000321771 SCV000636870 benign Deficiency of ferroxidase 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001705827 SCV001811682 likely benign not provided 2023-07-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV001705827 SCV005260911 likely benign not provided criteria provided, single submitter not provided
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.

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