Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082178 | SCV000639994 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000615561 | SCV000728902 | benign | not specified | 2017-05-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000659170 | SCV000780986 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ATP7A: BP4, BP7, BS2; PGK1: BS2 |
Ambry Genetics | RCV002316550 | SCV000850170 | likely benign | Inborn genetic diseases | 2016-09-01 | 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. |
Natera, |
RCV001834781 | SCV002089113 | benign | Menkes kinky-hair syndrome | 2019-12-06 | no assertion criteria provided | clinical testing |