ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1124+18G>C

gnomAD frequency: 0.00002  dbSNP: rs1555190434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667986 SCV000792521 likely benign Glucose-6-phosphate transport defect 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667986 SCV004530230 likely benign Glucose-6-phosphate transport defect 2024-09-06 criteria provided, single submitter clinical testing

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