Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551164 | SCV000643805 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997371 | SCV001152699 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330315 | SCV001521960 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV002491050 | SCV002794469 | 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 | 2021-09-17 | criteria provided, single submitter | clinical testing |