Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330797 | SCV001522609 | uncertain significance | Hereditary factor VIII deficiency disease | 2020-03-12 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001508070 | SCV001713976 | likely pathogenic | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | PS4_moderate, PM2, PP1, PP5 |