Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188127 | SCV000241734 | likely benign | not specified | 2017-10-10 | 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. |
Invitae | RCV000551392 | SCV000645780 | likely benign | Mental retardation, autosomal dominant 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000551392 | SCV000883219 | uncertain significance | Mental retardation, autosomal dominant 1 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Mental retardation, autosomal dominant 1, autosomal dominant. The following ACMG Tag(s) were applied: BS2-Supporting => BS2 downgraded in strength to supporting. |
Genome |
RCV000551392 | SCV000681396 | not provided | Mental retardation, autosomal dominant 1 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |