Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704884 | SCV000236037 | likely benign | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26937396) |
Invitae | RCV000456265 | SCV000563303 | benign | Dilated cardiomyopathy 1KK | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000183568 | SCV000711512 | likely benign | not specified | 2016-08-04 | criteria provided, single submitter | clinical testing | p.Thr746Ala in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (75/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs147287437). |
Ambry Genetics | RCV000621771 | SCV000736278 | likely benign | Cardiovascular phenotype | 2018-10-03 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000456265 | SCV000745055 | likely benign | Dilated cardiomyopathy 1KK | 2015-09-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001704884 | SCV001471494 | likely benign | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252026 | SCV002523565 | likely benign | See cases | 2020-02-25 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BP1, BP6 |
Ce |
RCV001704884 | SCV004009982 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MYPN: BP4, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000183568 | SCV004038579 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917694 | SCV004731093 | likely benign | MYPN-related condition | 2020-09-17 | 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, |
RCV001704884 | SCV001917155 | likely benign | not provided | no assertion criteria provided | clinical testing |