Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116493 | SCV000306683 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001079115 | SCV000563095 | benign | Oculofaciocardiodental syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720987 | SCV000851871 | benign | History of neurodevelopmental disorder | 2014-11-11 | 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 |
Gene |
RCV000828281 | SCV000969965 | benign | not provided | 2018-05-31 | 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. |
Genetic Services Laboratory, |
RCV000116493 | SCV000150433 | 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. |