Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081428 | SCV000113359 | benign | not specified | 2013-09-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081428 | SCV000171708 | benign | not specified | 2013-06-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genetic Services Laboratory, |
RCV000081428 | SCV000194961 | likely benign | not specified | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000457829 | SCV000557630 | benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313781 | SCV000849114 | likely benign | Inborn genetic diseases | 2017-02-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001727564 | SCV004127892 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | SLC2A1: BP4, BP7, BS2 |
Genome- |
RCV003445490 | SCV004172306 | likely benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445489 | SCV004172307 | likely benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445487 | SCV004172308 | likely benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445488 | SCV004172309 | likely benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445491 | SCV004172310 | likely benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000081428 | SCV001927946 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727564 | SCV001969760 | likely benign | not provided | no assertion criteria provided | clinical testing |