Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037489 | SCV000061147 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | 3978+8C>T in intron 28 of MYH6: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS). 3978+8C>T in intron 28 of MYH6 (allele frequency = 0.3%, 10/3738) ** |
Labcorp Genetics |
RCV000525038 | SCV000648257 | benign | Hypertrophic cardiomyopathy 14 | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000037489 | SCV000720611 | likely benign | not specified | 2017-06-27 | 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. |
Center for Advanced Laboratory Medicine, |
RCV000365468 | SCV000995405 | likely benign | Hypertrophic cardiomyopathy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037489 | SCV005395117 | benign | not specified | 2024-09-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037489 | SCV001918838 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000037489 | SCV001932860 | benign | not specified | no assertion criteria provided | clinical testing |