ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)

gnomAD frequency: 0.00001  dbSNP: rs1197991440
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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 RCV001410185 SCV001612228 likely benign Glucose-6-phosphate transport defect 2023-07-17 criteria provided, single submitter clinical testing

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