Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sydney Children's Hospital, |
RCV000779621 | SCV000853264 | likely pathogenic | Congenital ATN1 related disorder | 2018-11-27 | no assertion criteria provided | clinical testing | De novo variant in highly constrained HX domain with characteristic phenotypic features of CARD. |
OMIM | RCV000787321 | SCV000926251 | pathogenic | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2019-07-12 | no assertion criteria provided | literature only |