ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1074+8_1074+9delinsTT

dbSNP: rs1553155966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648097 SCV000769907 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2020-02-22 criteria provided, single submitter clinical testing

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