ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480108 SCV004227367 uncertain significance not provided 2023-02-20 criteria provided, single submitter clinical testing PM2
Revvity Omics, Revvity RCV003492881 SCV004234984 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-05-22 criteria provided, single submitter clinical testing

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