Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000515020 | SCV000610292 | uncertain significance | not provided | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311831 | SCV000846249 | uncertain significance | Inborn genetic diseases | 2018-09-30 | criteria provided, single submitter | clinical testing | The p.R196H variant (also known as c.587G>A), located in coding exon 4 of the MAN1B1 gene, results from a G to A substitution at nucleotide position 587. The arginine at codon 196 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Invitae | RCV001087338 | SCV001069645 | likely benign | Rafiq syndrome | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001087338 | SCV001368379 | benign | Rafiq syndrome | 2018-10-29 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. |