Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000675136 | SCV000800720 | uncertain significance | PHGDH deficiency; Neu-Laxova syndrome 1 | 2018-06-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002222400 | SCV002499788 | pathogenic | not provided | 2022-03-18 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect resulting in a significant reduction of enzyme catalytic activity (Xu et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34426522, 27475004, 15175111, 32516863, 33753166, 24836451, 30214071, 26960553, 21981974, 32594192, 32579715) |
Revvity Omics, |
RCV002222400 | SCV004238338 | likely pathogenic | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000128434 | SCV000172115 | pathogenic | Neu-Laxova syndrome 1 | 2014-06-05 | no assertion criteria provided | literature only |