Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429576 | SCV000522790 | benign | not specified | 2016-01-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000429576 | SCV000711575 | benign | not specified | 2016-08-22 | criteria provided, single submitter | clinical testing | p. Asp406Asp in exon 10B of DNM2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (106/16350) of South Asian chromosomes, including 1 homozygote by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147668465). |
ARUP Laboratories, |
RCV001531882 | SCV001472992 | benign | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531882 | SCV001747198 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | DNM2: BP4, BS2 |
Clinical Genetics, |
RCV001531882 | SCV001918714 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001531882 | SCV001930775 | likely benign | not provided | no assertion criteria provided | clinical testing |