ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.2523C>A (p.Asp841Glu)

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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 RCV004614615 SCV005102514 uncertain significance not specified 2024-05-30 criteria provided, single submitter clinical testing The c.2523C>A (p.D841E) alteration is located in exon 20 (coding exon 20) of the AXL gene. This alteration results from a C to A substitution at nucleotide position 2523, causing the aspartic acid (D) at amino acid position 841 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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