Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000106337 | SCV000291421 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000106337 | SCV000525610 | benign | not provided | 2016-09-29 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000106337 | SCV000699930 | benign | not provided | 2017-07-06 | criteria provided, single submitter | clinical testing | Variant summary: The A2ML1 c.861C>A (p.Asp287Glu) 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 898/120478 control chromosomes (5 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.011976 (798/66632). This frequency is about 2994 times the estimated maximal expected allele frequency of a pathogenic A2ML1 variant (0.000004), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as benign. |
Institute of Molecular Pathology and Immunology of the University of Porto |
RCV000106337 | SCV000143836 | not provided | not provided | no assertion provided | not provided | ||
Clinical Genetics, |
RCV001705816 | SCV001925694 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001705816 | SCV001955886 | benign | not specified | no assertion criteria provided | clinical testing |