Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538070 | SCV000623696 | uncertain significance | Hypertrophic cardiomyopathy | 2020-12-19 | 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. This variant has been observed in individual(s) with clinical features of MYH7-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 454365). This variant is not present in population databases (ExAC no frequency). This variant, c.3360_3371dup, results in the insertion of 4 amino acid(s) to the MYH7 protein (p.Leu1122_Glu1125dup), but otherwise preserves the integrity of the reading frame. |
Eurofins Ntd Llc |
RCV000597706 | SCV000701778 | uncertain significance | not provided | 2016-09-29 | criteria provided, single submitter | clinical testing |