ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.637G>A (p.Val213Ile)

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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 RCV004880081 SCV005536006 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.637G>A (p.V213I) alteration is located in exon 5 (coding exon 5) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 637, causing the valine (V) at amino acid position 213 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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