Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152813 | SCV000202207 | benign | not specified | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000152813 | SCV000246736 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152813 | SCV000532157 | benign | not specified | 2017-01-10 | 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. |
Invitae | RCV000532853 | SCV000639995 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316960 | SCV000851849 | benign | Inborn genetic diseases | 2017-02-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome Diagnostics Laboratory, |
RCV002277300 | SCV002565205 | benign | Ehlers-Danlos syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000532853 | SCV002794841 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2022-04-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927477 | SCV004739774 | benign | ATP7A-related condition | 2019-08-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000532853 | SCV001457719 | 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 |