Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156065 | SCV000205778 | uncertain significance | not specified | 2013-09-04 | criteria provided, single submitter | clinical testing | The Arg9220Gln variant in TTN has not been reported in any other families with c ardiomyopathy and data from large population studies is insufficient to assess t he frequency of this variant. Computational analyses are limited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of the Arg9220Gln variant. |
Invitae | RCV000467721 | SCV000542813 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726950 | SCV000704403 | uncertain significance | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478461 | SCV002782089 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000726950 | SCV003827884 | uncertain significance | not provided | 2022-09-21 | criteria provided, single submitter | clinical testing |