ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) (rs763664146)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516330 SCV000615313 benign not provided 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV001089259 SCV000769905 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2020-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000516330 SCV001771159 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing

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