ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)

dbSNP: rs1943676569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059753 SCV001224397 uncertain significance Glucose-6-phosphate transport defect 2021-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049751 SCV005680582 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2024-06-17 criteria provided, single submitter clinical testing

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