Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679912 | SCV000807343 | pathogenic | KBG syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 1-year-old male with VSD, PDA, microcephaly, dysmorphic features, delays, hypotonia. Inherited from mother with similar dysmorphisms, short stature, small head, learning disabilities. |
Ce |
RCV001200610 | SCV001371616 | pathogenic | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing |