Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814971 | SCV000955410 | uncertain significance | Alstrom syndrome | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442729 | SCV002732262 | uncertain significance | Cardiovascular phenotype | 2019-08-20 | criteria provided, single submitter | clinical testing | The p.Q761R variant (also known as c.2282A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 2282. The glutamine at codon 761 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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 alteration remains unclear. |
Fulgent Genetics, |
RCV000814971 | SCV002785477 | uncertain significance | Alstrom syndrome | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000814971 | SCV002080452 | uncertain significance | Alstrom syndrome | 2021-03-01 | no assertion criteria provided | clinical testing |