Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000415014 | SCV000793998 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2017-09-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000415014 | SCV000328846 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2016-05-01 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in ALG6 (NM_013339.3:c.257+5G>A; NM_013339.3:c.988G>T; in trans) and SHOX (NM_000451.3:c.517C>T) in an individual with mild hypotonia, poor feeding, congenital heart disease (VSD, PFO, PDA), seizure disorder, dysmorphic facies, small chest wall, bowed lower legs, apparently short upper extremities, shallow sacral dimple, small for gestational age and a history of prematurity and intrauterine growth restriction. |