Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520795 | SCV000620645 | likely benign | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000643535 | SCV000765222 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336909 | SCV001530429 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2018-05-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |