ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003492956 SCV004234982 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364871 SCV004922332 likely benign Inborn genetic diseases 2022-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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