Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172573 | SCV000054739 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000172573 | SCV000225084 | uncertain significance | not provided | 2015-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172573 | SCV000236054 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000183585 | SCV000270583 | likely benign | not specified | 2015-05-06 | criteria provided, single submitter | clinical testing | p.Arg597His in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (44/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150911078). |
Invitae | RCV001087174 | SCV000291111 | benign | Dilated cardiomyopathy 1KK | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621697 | SCV000735697 | likely benign | Cardiovascular phenotype | 2017-12-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000172573 | SCV000987494 | likely benign | not provided | criteria provided, single submitter | clinical testing | ||
Center for Advanced Laboratory Medicine, |
RCV000852610 | SCV000995313 | likely benign | Cardiomyopathy | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000183585 | SCV004038576 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965237 | SCV004782510 | likely benign | MYPN-related disorder | 2021-11-14 | 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). |
Clinical Genetics, |
RCV000183585 | SCV001978935 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000172573 | SCV001979724 | likely benign | not provided | no assertion criteria provided | clinical testing |