Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039859 | SCV000063550 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | p.Asp3601Asp in exon 47 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7/ 11536 Latino ch romosomes and 14/66666 European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; rs184307461). |
Gene |
RCV000727735 | SCV000515091 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
Invitae | RCV001085828 | SCV000555328 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727735 | SCV000855104 | uncertain significance | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000727735 | SCV001146320 | benign | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000039859 | SCV001160533 | likely benign | not specified | 2019-05-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798129 | SCV002042372 | likely benign | Cardiomyopathy | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727735 | SCV002063970 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039859 | SCV004038630 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000039859 | SCV001918398 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000727735 | SCV001962820 | likely benign | not provided | no assertion criteria provided | clinical testing |