Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626167 | SCV000746802 | uncertain significance | GM3 synthase deficiency | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000626167 | SCV001520495 | uncertain significance | GM3 synthase deficiency | 2020-06-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |