ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)

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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 RCV003492961 SCV004234992 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364873 SCV004922350 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.3597T>G (p.F1199L) alteration is located in exon 28 (coding exon 28) of the CDAN1 gene. This alteration results from a T to G substitution at nucleotide position 3597, causing the phenylalanine (F) at amino acid position 1199 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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