Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000059680 | SCV000329680 | pathogenic | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant has a deleterious effect on splicing; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22366787, 25169058, 24090879, 30459321) |
Diagnostic Laboratory, |
RCV001260811 | SCV001437906 | pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000022917 | SCV000044208 | pathogenic | Nicolaides-Baraitser syndrome | 2012-02-26 | no assertion criteria provided | literature only | |
Uni |
RCV000059680 | SCV000091250 | not provided | not provided | no assertion provided | not provided | ||
Autoinflammatory diseases unit, |
RCV001261297 | SCV001438106 | likely pathogenic | Hirsutism; Intellectual disability | 2019-09-26 | no assertion criteria provided | clinical testing |