Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952590 | SCV001099105 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391004 | SCV002698454 | uncertain significance | Inborn genetic diseases | 2021-01-20 | criteria provided, single submitter | clinical testing | The c.1427C>T (p.T476I) alteration is located in exon 5 (coding exon 4) of the ATP7A gene. This alteration results from a C to T substitution at nucleotide position 1427, causing the threonine (T) at amino acid position 476 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Center For Human Genetics And Laboratory Diagnostics, |
RCV002546039 | SCV003035468 | uncertain significance | X-linked distal spinal muscular atrophy type 3 | 2022-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438626 | SCV004165913 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | ATP7A: BS2 |
Natera, |
RCV001274228 | SCV001458101 | likely benign | Menkes kinky-hair syndrome | 2020-01-05 | no assertion criteria provided | clinical testing |