Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622306 | SCV000742068 | likely pathogenic | Inborn genetic diseases | 2017-05-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001328985 | SCV001520258 | likely pathogenic | Arts syndrome | 2020-04-02 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000010606 | SCV000030832 | pathogenic | Phosphoribosylpyrophosphate synthetase superactivity | 1993-12-15 | no assertion criteria provided | literature only |