ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2286-15del

gnomAD frequency: 0.30978  dbSNP: rs143522213
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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 RCV000262404 SCV000441626 benign Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000262404 SCV001729240 benign Deficiency of ferroxidase 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001653662 SCV001867962 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000262404 SCV001876291 benign Deficiency of ferroxidase 2021-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579984 SCV001809277 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579984 SCV001973390 benign not specified no assertion criteria provided clinical testing

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