Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome |
RCV001265448 | SCV001443580 | likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2018-12-31 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-12-31 and interpreted as Likely Pathogenic. Variant was initially reported on 2017-03-20 by GTR ID of laboratory name 279559. The reporting laboratory might also submit to ClinVar. |