Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003596558 | SCV000931127 | likely benign | FG syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535854 | SCV003739781 | uncertain significance | Inborn genetic diseases | 2021-03-03 | criteria provided, single submitter | clinical testing | The c.2450G>A (p.R817H) alteration is located in exon 18 (coding exon 18) of the MED12 gene. This alteration results from a G to A substitution at nucleotide position 2450, causing the arginine (R) at amino acid position 817 to be replaced by a histidine (H). The p.R817H alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003228988 | SCV003926120 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 639131; ClinVar); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918) |