Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV002227557 | SCV002506718 | likely pathogenic | Congenital myasthenic syndrome 3B | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541179 | SCV003010055 | pathogenic | Lethal multiple pterygium syndrome | 2022-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324077). This variant has not been reported in the literature in individuals affected with CHRND-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp83*) in the CHRND gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRND are known to be pathogenic (PMID: 11435464, 25264167). |