ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)

dbSNP: rs193302878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474641 SCV004202492 likely pathogenic Glucose-6-phosphate transport defect 2022-10-23 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059140 SCV000090669 not provided not provided no assertion provided not provided

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