Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002090753 | SCV002372720 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002993470 | SCV003583627 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The c.3533A>G (p.Y1178C) alteration is located in exon 18 (coding exon 17) of the ATP7A gene. This alteration results from a A to G substitution at nucleotide position 3533, causing the tyrosine (Y) at amino acid position 1178 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |