ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1209-15T>A

gnomAD frequency: 0.01446  dbSNP: rs35465173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297226 SCV000441644 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 RCV000297226 SCV001723518 benign Deficiency of ferroxidase 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001556628 SCV001778243 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001556628 SCV005260910 likely benign not provided criteria provided, single submitter not provided

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