Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266016 | SCV001444188 | pathogenic | Inborn genetic diseases | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265447 | SCV001443579 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2018-05-18 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-18 and interpreted as Pathogenic. Variant was initially reported on 2018-03-29 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar. |