Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643242 | SCV000764929 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332829 | SCV001525256 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2019-04-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |