Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000106336 | SCV000556876 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000106336 | SCV000699929 | benign | not provided | 2017-07-06 | criteria provided, single submitter | clinical testing | Variant summary: The A2ML1 c.619G>C (p.Gly207Arg) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 956/120716 control chromosomes (44 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.088193 (865/9808). This frequency is about 22048 times the estimated maximal expected allele frequency of a pathogenic A2ML1 variant (0.000004), thus it is a common benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory (via ClinVar) has classified this variant as benign. Taken together, this variant is classified as benign. |
Gene |
RCV000469664 | SCV000714142 | benign | not specified | 2016-12-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Institute of Molecular Pathology and Immunology of the University of Porto |
RCV000106336 | SCV000143835 | not provided | not provided | no assertion provided | not provided | ||
Clinical Genetics, |
RCV000469664 | SCV001917707 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000469664 | SCV001954286 | benign | not specified | no assertion criteria provided | clinical testing |