Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040833 | SCV000064524 | uncertain significance | not specified | 2015-02-20 | criteria provided, single submitter | clinical testing | The p.Thr29479Met variant in TTN has been previously identified by our laborator y in 1 Caucasian child with DCM. This variant has also been identified in 4/6672 4 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs375640847). Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Thr29479Met variant is unce rtain. |
Gene |
RCV000725040 | SCV000237819 | likely benign | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725040 | SCV000333462 | uncertain significance | not provided | 2015-07-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643737 | SCV000765424 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764305 | SCV000895324 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725040 | SCV001152636 | uncertain significance | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725040 | SCV004237077 | uncertain significance | not provided | 2023-02-15 | criteria provided, single submitter | clinical testing |