Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000116890 | SCV000232356 | benign | not specified | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116890 | SCV000316521 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000539772 | SCV000640951 | benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116890 | SCV000714655 | benign | not specified | 2017-08-03 | 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, |
RCV000116890 | SCV000150976 | 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. |