ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.1717A>G (p.Ile573Val)

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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 RCV005290938 SCV005961436 uncertain significance not specified 2025-01-08 criteria provided, single submitter clinical testing The c.1717A>G (p.I573V) alteration is located in exon 15 (coding exon 15) of the AXL gene. This alteration results from a A to G substitution at nucleotide position 1717, causing the isoleucine (I) at amino acid position 573 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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