Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000012441 | SCV000747077 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000012441 | SCV001368008 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2019-03-06 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. |
OMIM | RCV000012441 | SCV000032675 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2009-02-01 | no assertion criteria provided | literature only |