Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220082 | SCV000269257 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ser19Ser in exon 1 of MURC: This variant is not expected to have clinical signif icance 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% (27/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs141589872). |
Gene |
RCV001722147 | SCV000533286 | likely benign | not provided | 2020-08-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21642240) |
Breakthrough Genomics, |
RCV001722147 | SCV005224752 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003955248 | SCV004774173 | likely benign | CAVIN4-related disorder | 2019-04-01 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |