ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.992G>A (p.Gly331Glu)

dbSNP: rs2516410660
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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 RCV004324334 SCV003984859 uncertain significance not specified 2023-05-30 criteria provided, single submitter clinical testing The c.992G>A (p.G331E) alteration is located in exon 7 (coding exon 7) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 992, causing the glycine (G) at amino acid position 331 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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