Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001086481 | SCV000290703 | likely benign | Walker-Warburg congenital muscular dystrophy | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117039 | SCV000314272 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000117039 | SCV000337230 | benign | not specified | 2015-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711666 | SCV000519103 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27142102) |
Athena Diagnostics | RCV000117039 | SCV000842053 | likely benign | not specified | 2023-10-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000711666 | SCV000885460 | likely benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001836732 | SCV002097986 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426662 | SCV002680934 | benign | Cardiovascular phenotype | 2019-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117039 | SCV005885364 | likely benign | not specified | 2025-02-24 | criteria provided, single submitter | clinical testing | Variant summary: FKRP c.822C>G (p.Ile274Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00069 in 114982 control chromosomes, predominantly at a frequency of 0.0096 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in FKRP causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive phenotype (0.0024). To our knowledge, no occurrence of c.822C>G in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 129058). Based on the evidence outlined above, the variant was classified as likely benign. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000117039 | SCV006067075 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117039 | SCV000151165 | 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. | |
Clinical Genetics, |
RCV000117039 | SCV001919919 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117039 | SCV001967758 | benign | not specified | no assertion criteria provided | clinical testing |