Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466327 | SCV000542429 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481373 | SCV002786312 | 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 | 2021-11-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139611 | SCV003827216 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147468 | SCV003835714 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147464 | SCV003835794 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147465 | SCV003835895 | uncertain significance | Dilated cardiomyopathy 1G | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147469 | SCV003835962 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147466 | SCV003836072 | uncertain significance | Tibial muscular dystrophy | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147467 | SCV003836073 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003139611 | SCV004701947 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |