Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525195 | SCV000643036 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000594417 | SCV000701356 | uncertain significance | not provided | 2017-03-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594417 | SCV003918750 | uncertain significance | not provided | 2023-04-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing |