Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000754379 | SCV000786614 | likely pathogenic | not provided | 2020-05-22 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect impairing TGN pH homeostasis and glycosylation of exported cargo (Khayat et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30335141) |
SIB Swiss Institute of Bioinformatics | RCV000766217 | SCV000996434 | likely pathogenic | Intellectual developmental disorder, X-linked 108 | 2019-07-22 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Intellectual developmental disorder, X-linked 108. The following ACMG Tag(s) were applied: PM2, PS3-Moderate, PP1-Strong. |
Sydney Children's Hospital, |
RCV000754991 | SCV000803662 | likely pathogenic | SLC9A7-related neurodevelopmental disorder | 2018-06-11 | no assertion criteria provided | research | |
OMIM | RCV000766217 | SCV000897695 | pathogenic | Intellectual developmental disorder, X-linked 108 | 2019-04-08 | no assertion criteria provided | literature only |