ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser)

gnomAD frequency: 0.00001  dbSNP: rs120074166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698821 SCV005200860 uncertain significance not provided 2024-06-05 criteria provided, single submitter clinical testing PM2, PM3, PP3
Fulgent Genetics, Fulgent Genetics RCV005007811 SCV005637833 likely pathogenic Anemia, congenital dyserythropoietic, type 1a 2024-02-08 criteria provided, single submitter clinical testing
OMIM RCV000003328 SCV000023486 pathogenic Congenital dyserythropoietic anemia, type I 2003-07-01 no assertion criteria provided literature only

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