Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041652 | SCV001205276 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585940 | SCV001817974 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Functional analysis in human cardiomyocytes showed differential protein accumulation but similar protein expression levels compared with wild type (Qin et al., 2021); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 839809; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 33455984, 27535533) |
Fulgent Genetics, |
RCV002481889 | SCV002780139 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-07-09 | criteria provided, single submitter | clinical testing |