Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723873 | SCV000203690 | uncertain significance | not provided | 2014-04-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000217341 | SCV000272758 | uncertain significance | not specified | 2015-07-02 | criteria provided, single submitter | clinical testing | The p.Arg22484His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8606 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs542720402). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Arg22484His variant is uncertain. |
Invitae | RCV000643883 | SCV000765570 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000723873 | SCV003820268 | uncertain significance | not provided | 2021-12-16 | criteria provided, single submitter | clinical testing |