ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.674A>G (p.Asp225Gly)

dbSNP: rs1305559152
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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 RCV002698086 SCV003723100 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.674A>G (p.D225G) alteration is located in exon 6 (coding exon 5) of the ANXA11 gene. This alteration results from a A to G substitution at nucleotide position 674, causing the aspartic acid (D) at amino acid position 225 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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