Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726101 | SCV000238252 | likely benign | not provided | 2020-08-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000215380 | SCV000270979 | likely benign | not specified | 2015-03-21 | criteria provided, single submitter | clinical testing | p.Cys4883Gly in exon 60 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (58/8346) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370812788). |
Ambry Genetics | RCV000253515 | SCV000318622 | uncertain significance | Cardiovascular phenotype | 2013-05-24 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Invitae | RCV001079996 | SCV000642753 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726101 | SCV000701229 | uncertain significance | not provided | 2017-01-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726101 | SCV001146331 | benign | not provided | 2018-12-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798658 | SCV002042386 | benign | Cardiomyopathy | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000215380 | SCV002570984 | likely benign | not specified | 2022-07-02 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000215380 | SCV001917621 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726101 | SCV001975325 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000726101 | SCV002033960 | likely benign | not provided | no assertion criteria provided | clinical testing |