ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)

gnomAD frequency: 0.00006  dbSNP: rs782025581
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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 RCV001043558 SCV001207309 uncertain significance Glucose-6-phosphate transport defect 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481906 SCV002782415 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001043558 SCV002078607 uncertain significance Glucose-6-phosphate transport defect 2020-08-12 no assertion criteria provided clinical testing

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