Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703372 | SCV000832269 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508045 | SCV001713946 | uncertain significance | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508045 | SCV001792429 | likely benign | not provided | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003380695 | SCV004090828 | uncertain significance | Inborn genetic diseases | 2023-08-29 | criteria provided, single submitter | clinical testing | The c.844A>G (p.I282V) alteration is located in exon 4 (coding exon 3) of the ATP7A gene. This alteration results from a A to G substitution at nucleotide position 844, causing the isoleucine (I) at amino acid position 282 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV001508045 | SCV004184922 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ATP7A: BP4 |