Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003143599 | SCV003832775 | uncertain significance | X-linked congenital hemolytic anemia | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004246100 | SCV004910010 | uncertain significance | not specified | 2023-12-26 | criteria provided, single submitter | clinical testing | The c.1170A>T (p.E390D) alteration is located in exon 12 (coding exon 12) of the ATP11C gene. This alteration results from a A to T substitution at nucleotide position 1170, causing the glutamic acid (E) at amino acid position 390 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |