Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199346 | SCV000250343 | benign | not specified | 2014-08-12 | 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 | RCV001085562 | SCV000639795 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619853 | SCV000739045 | benign | Cardiovascular phenotype | 2017-11-07 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Athena Diagnostics Inc | RCV000711671 | SCV000842058 | benign | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720955 | SCV000851839 | benign | History of neurodevelopmental disorder | 2017-11-07 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000199346 | SCV004122599 | benign | not specified | 2023-10-09 | criteria provided, single submitter | clinical testing |