Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184634 | SCV000237311 | likely benign | not specified | 2017-12-22 | 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 | RCV001087244 | SCV000555491 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727777 | SCV000855169 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000184634 | SCV000967325 | likely benign | not specified | 2018-02-07 | criteria provided, single submitter | clinical testing | p.Pro15792Leu in exon 232 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.16% (39/23974) of African chrom osomes by the Genome Aggregation Database (GnomAD, http://gnomad.broadinstitute. org; dbSNP rs192788942). ACMG/AMP Criteria applied: PP3, BS1. |
Ambry Genetics | RCV002433827 | SCV002746438 | likely benign | Cardiovascular phenotype | 2018-09-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV000727777 | SCV003825865 | uncertain significance | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing |