Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000415358 | SCV000328747 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2016-05-01 | no assertion criteria provided | clinical testing | Our laboratory reported two molecular diagnoses in MYH2 (NM_017534.5:c.1160C>T) and SMC1A (NM_006306.3:c.116C>G) in an individual reported to have delayed motor milestones, delayed speech, intellectual disability, hypotonia, seizure disorder, dysmorphic features, short stature, microcephaly, joint contractures, failure to thrive, cerebral palsy, scoliosis, and sensitive skin. |