ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2286-14dup

dbSNP: rs561633350
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330375 SCV000441624 uncertain significance Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000330375 SCV001733461 benign Deficiency of ferroxidase 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001529365 SCV001905284 benign not provided 2019-09-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529365 SCV001742677 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579609 SCV001807883 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579609 SCV001971241 benign not specified no assertion criteria provided clinical testing

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