Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514047 | SCV000610375 | likely benign | not provided | 2017-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080042 | SCV000641726 | benign | Lethal multiple pterygium syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116731 | SCV000721857 | benign | not specified | 2018-01-12 | 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. |
Genetic Services Laboratory, |
RCV000116731 | SCV000150705 | 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. |