Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724189 | SCV000225578 | uncertain significance | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000225700 | SCV000250324 | benign | not specified | 2014-10-21 | 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. |
Ambry Genetics | RCV000253412 | SCV000320248 | likely benign | Cardiovascular phenotype | 2015-09-22 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes) |
Ambry Genetics | RCV000721094 | SCV000851980 | likely benign | History of neurodevelopmental disorder | 2015-09-22 | criteria provided, single submitter | clinical testing | Rarity in general population databases (dbsnp, esp, 1000 genomes) |
Invitae | RCV001510326 | SCV001717336 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000724189 | SCV003800253 | likely benign | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing |