Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV001089623 | SCV001245099 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-16 | criteria provided, single submitter | research | LDB3 c.3222-5C>T has not been previously reported and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a HCM proband with no family history of disease. Splice prediction tools MaxEntScan and AdaBoost do not predict this variant to cause aberrant splicing. Therefore we classify this as a variant of 'uncertain significance'. |
Invitae | RCV003611546 | SCV004400895 | likely benign | Myofibrillar myopathy 4 | 2023-03-27 | criteria provided, single submitter | clinical testing |