Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000498857 | SCV000336607 | pathogenic | not provided | 2015-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000498857 | SCV000589548 | likely pathogenic | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 16650086, 18055493, 26677118) |
Invitae | RCV000809165 | SCV000949307 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu87Serfs*4) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs753360208, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with autosomal recessive muscular dystrophy (PMID: 16650086, 26677118). ClinVar contains an entry for this variant (Variation ID: 284122). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000498857 | SCV003813129 | pathogenic | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475904 | SCV004211530 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-18 | criteria provided, single submitter | clinical testing |