Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000999588 | SCV001156290 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-16 | criteria provided, single submitter | research | TTN Arg10083His has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband of Aboriginal and European descent with no family history of disease. In silico tools, PolyPhen2 and CADD predict this variant to be deleterious, but MutationTaster predicts it to be a 'polymorphism'. Based on this information we classify this as a variant of 'uncertain significance'. |
Fulgent Genetics, |
RCV002505526 | SCV002816577 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-05 | criteria provided, single submitter | clinical testing |