Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000190673 | SCV000244113 | uncertain significance | Inborn genetic diseases | 2013-04-01 | criteria provided, single submitter | clinical testing | Based on data from the NHLBI Exome Sequencing Project (ESP), the C-allele has an overall frequency of approximately 0.04% (4/10758) total alleles studied. The C-allele was observed in 0.06% (4/7020) of European American alleles, was not observed in 3738 African American alleles studied, and was not observed in the homozygous state out of 5379 individuals studied. Based on data from the 1000 Genomes Project, the C-allele has an overall frequency of approximately 2/2188 (0.09%), the highest frequency being 0.83% (1/120) among Colombian chromosomes studied. The alteration is currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP) as rs145649029. The M296 amino acid is not well conserved in available vertebrate species.This alteration is predicted to be tolerated with a score of 0.060 (conservation: 1.95) |
Invitae | RCV000882224 | SCV001025452 | likely benign | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing |