Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000242649 | SCV000318568 | uncertain significance | Cardiovascular phenotype | 2013-04-25 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Eurofins Ntd Llc |
RCV000280450 | SCV000335250 | uncertain significance | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768937 | SCV000900310 | uncertain significance | Cardiomyopathy | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503954 | SCV002816594 | 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, |
RCV000280450 | SCV003827912 | uncertain significance | not provided | 2022-08-12 | criteria provided, single submitter | clinical testing |