Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175237 | SCV000226686 | benign | not specified | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000175237 | SCV000270591 | likely benign | not specified | 2015-06-26 | criteria provided, single submitter | clinical testing | p.Arg1139Arg in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue. It has been identif ied in 0.1% (10/8644) of East Asian chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org; dbSNP rs144488384). |
Ambry Genetics | RCV000241815 | SCV000319713 | likely benign | Cardiovascular phenotype | 2020-06-26 | 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. |
Invitae | RCV000532775 | SCV000659204 | likely benign | Dilated cardiomyopathy 1KK | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001594865 | SCV001829737 | likely benign | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001594865 | SCV004126623 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | MYPN: BP4, BP7 |
Prevention |
RCV003947482 | SCV004765406 | likely benign | MYPN-related condition | 2020-08-21 | criteria provided, single submitter | 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). |