Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000768568 | SCV001146817 | likely pathogenic | Leukodystrophy, hypomyelinating, 18 | 2019-09-25 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Leukodystrophy, hypomyelinating, 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PS3. |
OMIM | RCV000768568 | SCV000899272 | pathogenic | Leukodystrophy, hypomyelinating, 18 | 2019-04-30 | no assertion criteria provided | literature only |