ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)

gnomAD frequency: 0.00001  dbSNP: rs1474838395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672845 SCV000797991 uncertain significance Glucose-6-phosphate transport defect 2018-02-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000672845 SCV001466212 uncertain significance Glucose-6-phosphate transport defect 2020-04-16 no assertion criteria provided clinical testing

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