Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001781296 | SCV002017801 | likely pathogenic | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001781296 | SCV005041131 | pathogenic | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | FLNC: PP4:Strong, PM2, PP1, PP3, PS3:Supporting, PS4:Supporting |
OMIM | RCV000022428 | SCV000043717 | pathogenic | Distal myopathy with posterior leg and anterior hand involvement | 2011-06-10 | no assertion criteria provided | literature only |