ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)

dbSNP: rs370839177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245657 SCV001418958 uncertain significance Glucose-6-phosphate transport defect 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499419 SCV002785408 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245657 SCV002082096 uncertain significance Glucose-6-phosphate transport defect 2021-03-17 no assertion criteria provided clinical testing

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