Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523000 | SCV000617410 | pathogenic | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21228480, 27193221, 29575627, 12612583) |
Laboratory of Medical Genetics, |
RCV000012524 | SCV001976842 | pathogenic | Melnick-Needles syndrome | 2021-10-05 | criteria provided, single submitter | clinical testing | PM1, PM2, PP3, PP5 |
Ce |
RCV000523000 | SCV004165107 | pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | FLNA: PP4:Strong, PM1, PM2, PS4:Moderate, PP1 |
OMIM | RCV000012524 | SCV000032758 | pathogenic | Melnick-Needles syndrome | 2018-01-04 | no assertion criteria provided | literature only | |
Gene |
RCV000012524 | SCV000040826 | not provided | Melnick-Needles syndrome | no assertion provided | literature only |