Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591257 | SCV000704000 | pathogenic | not provided | 2018-07-23 | criteria provided, single submitter | clinical testing | |
Center For Human Genetics And Laboratory Diagnostics, |
RCV000624108 | SCV000740282 | likely pathogenic | Marshall syndrome | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Center of Genomic medicine, |
RCV001799515 | SCV001739307 | pathogenic | Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 | 2020-09-11 | criteria provided, single submitter | clinical testing | |
DASA | RCV001824151 | SCV002073773 | likely pathogenic | Stickler syndrome type 2 | 2022-02-05 | criteria provided, single submitter | clinical testing | The c.4547G>T;p.(Gly1516Val) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID: 20513134) - PS4_supporting. The variant is located in a mutational hot spot and/or critical and well-established functional domain (collagen helix of α1(XI) collagen) - PM1. This variant is not present in population databases (rs1553193910; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic. |