Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003448657 | SCV004176417 | likely pathogenic | Congenital myasthenic syndrome 5 | 2023-03-01 | criteria provided, single submitter | clinical testing | The invariant splice acceptor c.955-2A>C variant in COLQ gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.955-2A>C variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |
Baylor Genetics | RCV003448657 | SCV004214448 | pathogenic | Congenital myasthenic syndrome 5 | 2024-02-08 | criteria provided, single submitter | clinical testing |