Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000117060 | SCV000168577 | benign | not specified | 2014-05-17 | 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. |
Ambry Genetics | RCV000250387 | SCV000319483 | benign | Cardiovascular phenotype | 2014-12-13 | 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 |
Invitae | RCV000757304 | SCV000556030 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715658 | SCV000846488 | benign | History of neurodevelopmental disorder | 2014-12-13 | 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 |
ARUP Laboratories, |
RCV001811967 | SCV000885472 | benign | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117060 | SCV004029248 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117060 | SCV000151201 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Genome Diagnostics Laboratory, |
RCV000117060 | SCV001807491 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117060 | SCV001970681 | benign | not specified | no assertion criteria provided | clinical testing |