Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000210608 | SCV000262932 | uncertain significance | Inborn genetic diseases | 2012-11-29 | criteria provided, single submitter | clinical testing | N/AN/ABased on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.12% (11/9498 total alleles studied). The A-allele was observed in 0.17% of European American (11/6556 alleles), was not observed among 2942 African American alleles studied, and has not been observed in the homozygous state among 4749 individuals studied. Based on data from the 1000 Genomes Project, the A-allele has an overall frequency of approximately 2/2188 (0.09%) and the highest frequency was in the British (0.56% 1/178 alleles). This amino acid position is completely conserved in available vertebrate species.This alteration is predicted to be possibly damaging with a score of 0.770 (sensitivity: 0.76; specificity: 0.86)This alteration is predicted to be tolerated with a score of 0.340 (conservation: 1.75) |
Center for Pediatric Genomic Medicine, |
RCV000224419 | SCV000281321 | uncertain significance | not provided | 2016-04-21 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV000224419 | SCV001025122 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224419 | SCV004131806 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | WASHC4: BS2 |
Prevention |
RCV003955242 | SCV004769211 | likely benign | WASHC4-related condition | 2023-05-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |