Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062368 | SCV001227163 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760027 | SCV001999853 | uncertain significance | not provided | 2019-12-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002379584 | SCV002693759 | uncertain significance | Inborn genetic diseases | 2020-10-08 | criteria provided, single submitter | clinical testing | The p.R436W variant (also known as c.1306C>T), located in coding exon 9 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 1306. The arginine at codon 436 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |