ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)

dbSNP: rs886047748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281567 SCV000367671 benign Glycogen storage disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000673349 SCV000798538 uncertain significance Glucose-6-phosphate transport defect 2018-03-13 criteria provided, single submitter clinical testing

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