Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000721040 | SCV000851924 | uncertain significance | History of neurodevelopmental disorder | 2012-12-12 | criteria provided, single submitter | clinical testing | Co-segregation data for this variant is currently unavailable.This variant has not been detected in conjunction with a pathogenic mutation to date.This variant was previously reported in the SNPDatabase as rs150319104 (Database of Single Nucleotide Polymorphisms (dbSNP). Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.05% (1/1993) total male alleles studied and was not observed in the homozygous state out of 3382 females studied. The A-allele was observed in 0.19% (1/521) African American male alleles but was absent out of 1472 European American male alleles studied. Based on data from the 1000 Genomes Project, the A-allele was absent out of 1048 male alleles studied. This amino acid position is not conserved on species alignment.This alteration is predicted to be possibly damaging with a score of 0.746 (sensitivity: 0.76; specificity: 0.86)This alteration is predicted to be tolerated with a score of 0.520 (conservation: 3.62) |
Invitae | RCV000861992 | SCV001002418 | benign | Dyskeratosis congenita | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816790 | SCV002071695 | likely benign | not specified | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000861992 | SCV002535825 | likely benign | Dyskeratosis congenita | 2021-12-01 | criteria provided, single submitter | curation | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573187 | SCV001798654 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573187 | SCV001970105 | likely benign | not provided | no assertion criteria provided | clinical testing |