Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330618 | SCV001522357 | pathogenic | Baraitser-winter syndrome 2 | 2020-10-21 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Department of Pediatrics, |
RCV001252691 | SCV001163834 | likely pathogenic | Microcephaly | no assertion criteria provided | research |