ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.785+16G>A

gnomAD frequency: 0.00001  dbSNP: rs1283553362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667873 SCV000792385 likely benign Glucose-6-phosphate transport defect 2017-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667873 SCV001597624 likely benign Glucose-6-phosphate transport defect 2024-08-04 criteria provided, single submitter clinical testing

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