Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725407 | SCV000336751 | uncertain significance | not provided | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085214 | SCV000639968 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725407 | SCV000719202 | benign | not provided | 2020-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314011 | SCV000849038 | likely benign | Inborn genetic diseases | 2017-02-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV000725407 | SCV004165917 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ATP7A: BS1 |
Natera, |
RCV001085214 | SCV001457708 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2020-09-16 | no assertion criteria provided | clinical testing |