ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.452C>T (p.Ala151Val)

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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 RCV004880067 SCV005535986 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The c.452C>T (p.A151V) alteration is located in exon 4 (coding exon 4) of the AXL gene. This alteration results from a C to T substitution at nucleotide position 452, causing the alanine (A) at amino acid position 151 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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