ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.874C>G (p.His292Asp)

dbSNP: rs1160421475
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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 RCV004423406 SCV004912411 uncertain significance not specified 2023-09-29 criteria provided, single submitter clinical testing The c.874C>G (p.H292D) alteration is located in exon 7 (coding exon 7) of the AXL gene. This alteration results from a C to G substitution at nucleotide position 874, causing the histidine (H) at amino acid position 292 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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