Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238023 | SCV001410817 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-06-29 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 963912). This variant has been observed in individual(s) with DSP-related conditions (PMID: 29247119). This variant is present in population databases (rs746639284, gnomAD 0.02%). This variant, c.4226_4228del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Ile1409del), but otherwise preserves the integrity of the reading frame. |
Mayo Clinic Laboratories, |
RCV001509258 | SCV001715871 | uncertain significance | not provided | 2021-02-18 | criteria provided, single submitter | clinical testing |