Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178131 | SCV000230135 | likely pathogenic | not provided | 2014-08-06 | criteria provided, single submitter | clinical testing | |
3billion | RCV003152691 | SCV003841722 | pathogenic | Syndromic X-linked intellectual disability 94 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with GRIA3 related disorder (ClinVar ID: VCV000197168). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |