Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000282092 | SCV000345489 | benign | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000282092 | SCV000728681 | benign | not specified | 2017-04-24 | 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. |
Labcorp Genetics |
RCV001086381 | SCV000763855 | benign | Baraitser-Winter syndrome 1 | 2025-02-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000642201 | SCV001142913 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001086381 | SCV002524408 | benign | Baraitser-Winter syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253375 | SCV002524409 | benign | Developmental malformations-deafness-dystonia syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502156 | SCV002805018 | benign | Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome | 2021-07-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004549624 | SCV004762308 | benign | ACTB-related disorder | 2021-10-27 | no assertion criteria provided | 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). |