ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.679+7G>A

dbSNP: rs13306757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073298 SCV002370087 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2023-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702179 SCV001930976 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727977 SCV001972572 likely benign not provided no assertion criteria provided clinical testing

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