Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV001249694 | SCV001423690 | likely pathogenic | Intellectual disability, autosomal dominant 5 | 2018-06-28 | criteria provided, single submitter | clinical testing | [ACMG/AMP: PVS1, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is absent from or rarely observed in large-scale population databases [PM2]. |
Genome |
RCV001265524 | SCV001443668 | likely pathogenic | Complex neurodevelopmental disorder | 2018-10-15 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-10-15 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-06-28 by GTR ID of laboratory name 196472. The reporting laboratory might also submit to ClinVar. |