Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041596 | SCV000065292 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Leu399Leu in exon 10 of SCN5A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3368 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Leu399Leu in exon 10 of SCN5A (allele freque ncy = 1/3368) ** |
Gene |
RCV000041596 | SCV000514535 | benign | not specified | 2015-05-28 | 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. |
Invitae | RCV003654187 | SCV000557102 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841585 | SCV000914082 | likely benign | Cardiac arrhythmia | 2018-06-11 | criteria provided, single submitter | clinical testing |