ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.382-10T>C

gnomAD frequency: 0.00002  dbSNP: rs914753772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670599 SCV000795471 uncertain significance Glucose-6-phosphate transport defect 2017-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670599 SCV002399200 likely benign Glucose-6-phosphate transport defect 2023-06-05 criteria provided, single submitter clinical testing

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