Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036816 | SCV001200199 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002266989 | SCV002549461 | uncertain significance | not provided | 2022-01-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Lupski Lab, |
RCV000656200 | SCV000678394 | uncertain significance | Wolff-Parkinson-White pattern | 2017-07-14 | no assertion criteria provided | research | This variant was identified in an individual with Wolff-Parkinson-White syndrome |