ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)

gnomAD frequency: 0.00001  dbSNP: rs1326476812
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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 RCV001440054 SCV001642957 likely benign Glucose-6-phosphate transport defect 2022-07-29 criteria provided, single submitter clinical testing

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