Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487712 | SCV000574756 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | SLC2A1: BS1, BS2 |
Eurofins Ntd Llc |
RCV000598131 | SCV000705073 | benign | not specified | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001512190 | SCV001719556 | benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446082 | SCV004173996 | benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446081 | SCV004173997 | benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446079 | SCV004173998 | benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446080 | SCV004173999 | benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446083 | SCV004174000 | benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000487712 | SCV005288385 | benign | not provided | criteria provided, single submitter | not provided |