ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.1102G>C (p.Gly368Arg)

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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 RCV004959220 SCV005453050 uncertain significance Inborn genetic diseases 2024-12-07 criteria provided, single submitter clinical testing The c.1102G>C (p.G368R) alteration is located in exon 11 (coding exon 10) of the ANXA11 gene. This alteration results from a G to C substitution at nucleotide position 1102, causing the glycine (G) at amino acid position 368 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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