Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004205396 | SCV003703913 | uncertain significance | not specified | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.1109A>G (p.K370R) alteration is located in exon 12 (coding exon 12) of the ATP11C gene. This alteration results from a A to G substitution at nucleotide position 1109, causing the lysine (K) at amino acid position 370 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003143564 | SCV003832781 | uncertain significance | X-linked congenital hemolytic anemia | 2023-10-18 | criteria provided, single submitter | clinical testing |