ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.1696T>C (p.Ser566Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004612486 SCV005105529 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.1705T>C (p.S569P) alteration is located in exon 11 (coding exon 11) of the CEL gene. This alteration results from a T to C substitution at nucleotide position 1705, causing the serine (S) at amino acid position 569 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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