Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000445022 | SCV000531041 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085591 | SCV001092198 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196180 | SCV001366715 | uncertain significance | Cutis laxa, X-linked | 2019-08-17 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in hemizygous state. |
Genome Diagnostics Laboratory, |
RCV002279202 | SCV002566145 | uncertain significance | Ehlers-Danlos syndrome | 2022-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348215 | SCV002648481 | likely benign | Inborn genetic diseases | 2019-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV000445022 | SCV004165910 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | ATP7A: BS2 |
Natera, |
RCV001274227 | SCV001458100 | likely benign | Menkes kinky-hair syndrome | 2020-06-03 | no assertion criteria provided | clinical testing |