Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549339 | SCV000656672 | likely benign | Atrial fibrillation, familial, 18 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755908 | SCV002005488 | likely benign | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a likely benign variant but additional evidence is not available (ClinVar Variant ID# 476199; Landrum et al., 2016) |
Center for Genomics, |
RCV000549339 | SCV003920245 | uncertain significance | Atrial fibrillation, familial, 18 | 2021-03-30 | criteria provided, single submitter | clinical testing | MYL4 NM_001002841.1 exon 4 p.Phe56Ser (c.167T>C): This variant has not been reported in the literature and is present in 0.5% (131/24972) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-45297273-T-C). This variant is present in ClinVar (Variation ID:476199). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |