ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.872-6C>G

gnomAD frequency: 0.00001  dbSNP: rs781985446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673914 SCV000799170 uncertain significance Glucose-6-phosphate transport defect 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673914 SCV001412164 likely benign Glucose-6-phosphate transport defect 2023-11-27 criteria provided, single submitter clinical testing

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