ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.726G>A (p.Gln242=)

dbSNP: rs1570592618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872199 SCV001013981 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002064697 SCV002496867 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing

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