ClinVar Miner

Submissions for variant NM_003502.4(AXIN1):c.1118G>A (p.Arg373His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004069868 SCV003527947 uncertain significance not specified 2021-10-29 criteria provided, single submitter clinical testing The c.1118G>A (p.R373H) alteration is located in exon 5 (coding exon 4) of the AXIN1 gene. This alteration results from a G to A substitution at nucleotide position 1118, causing the arginine (R) at amino acid position 373 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992716 SCV004809917 uncertain significance Hepatocellular carcinoma 2024-04-04 criteria provided, single submitter clinical testing

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