ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.785+12A>G

gnomAD frequency: 0.00002  dbSNP: rs976964945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668881 SCV000793555 likely benign Glucose-6-phosphate transport defect 2017-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668881 SCV003003519 likely benign Glucose-6-phosphate transport defect 2022-12-15 criteria provided, single submitter clinical testing

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