ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3338T>C (p.Leu1113Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV005230653 SCV005200861 likely pathogenic Anemia, congenital dyserythropoietic, type 1a 2024-08-23 criteria provided, single submitter clinical testing PM2, PM3, PP3, PS3_Supporting

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