ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.986-8C>T

gnomAD frequency: 0.00001  dbSNP: rs782425309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670771 SCV000795667 uncertain significance Glucose-6-phosphate transport defect 2017-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670771 SCV001624707 likely benign Glucose-6-phosphate transport defect 2023-11-02 criteria provided, single submitter clinical testing

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