Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000781946 | SCV000996475 | likely pathogenic | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2019-08-22 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM4, PM1, PM3, PS3-moderate. |
OMIM | RCV000855550 | SCV000920381 | pathogenic | NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA | 2019-11-05 | no assertion criteria provided | literature only |