Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038071 | SCV000061737 | uncertain significance | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | The p.Asp203Asn variant in DSP has been identified by our laboratory in one indi vidual with early onset severe left ventricular dysfunction and biventricular di lation. This variant has been identified in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs374100807). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Asp203Asn variant is uncertain. |
Invitae | RCV000699696 | SCV000828419 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-09-25 | criteria provided, single submitter | clinical testing |