Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV004785861 | SCV005400943 | uncertain significance | X-linked congenital hemolytic anemia | 2023-07-22 | criteria provided, single submitter | clinical testing | The observed splice region/ intron variant c.2964+3A>G in ATP11C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2964+3A>G variant is reported with 0.002% allele frequency in gnomAD Exomes. The variant is predicted as Benign by SpliceAI Prediction. For these reasons, this variant has been classified as Uncertain Significance. |