ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002739049 SCV003745425 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.2585T>C (p.L862S) alteration is located in exon 19 (coding exon 19) of the CDAN1 gene. This alteration results from a T to C substitution at nucleotide position 2585, causing the leucine (L) at amino acid position 862 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143572 SCV003829431 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-06-30 criteria provided, single submitter clinical testing

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