Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000405878 | SCV000348697 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000298025 | SCV000348698 | uncertain significance | Congenital muscular dystrophy due to LMNA mutation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359848 | SCV000348699 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000267691 | SCV000348700 | uncertain significance | Emery-Dreifuss muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301697 | SCV000348701 | uncertain significance | Hutchinson-Gilford syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359648 | SCV000348702 | uncertain significance | Lethal tight skin contracture syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000272013 | SCV000348703 | uncertain significance | Mandibuloacral dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301697 | SCV000348704 | uncertain significance | Hutchinson-Gilford syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000381613 | SCV000348705 | uncertain significance | Familial partial lipodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000270930 | SCV000348706 | uncertain significance | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000332962 | SCV000348707 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301697 | SCV000348708 | uncertain significance | Hutchinson-Gilford syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing |