Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000334528 | SCV000335417 | uncertain significance | not provided | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764608 | SCV000895707 | uncertain significance | Stuve-Wiedemann syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000334528 | SCV001112958 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000764608 | SCV001159844 | uncertain significance | Stuve-Wiedemann syndrome | 2019-11-08 | criteria provided, single submitter | clinical testing | The LIFR c.364A>G; p.Thr122Ala variant (rs145163157), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283380). This variant is found in the African population with an allele frequency of 0.35% (86/24,768 alleles) in the Genome Aggregation Database. The threonine at codon 122 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is benign. However, due to limited information, the clinical significance of this variant is uncertain at this time. |
Gene |
RCV000334528 | SCV002061128 | uncertain significance | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |