ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286500 SCV002576473 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-09-20 criteria provided, single submitter clinical testing _x000D_This variant was identified as compound heterozygous with NM_138477.4:c.2029C>T. Criteria applied: PP3, PM2_SUP

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