Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001269183 | SCV001448467 | likely benign | not specified | 2020-11-23 | criteria provided, single submitter | clinical testing | Variant summary: LDB3 c.399_407dupAGGCACCCC (p.Gly134_Pro136dup) results in an in-frame duplication that is predicted to duplicate 3 amino acids into the encoded protein. The variant allele was found at a frequency of 0.00015 in 245496 control chromosomes (gnomAD). The observed variant frequency is approximately 6-fold of the estimated maximal expected allele frequency for a pathogenic variant in LDB3 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.399_407dupAGGCACCCC in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
| Invitae | RCV002069392 | SCV002475599 | likely benign | Myofibrillar myopathy 4 | 2022-11-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003166598 | SCV003859946 | likely benign | Cardiovascular phenotype | 2023-02-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |