ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)

dbSNP: rs1555190400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672666 SCV000797795 uncertain significance Glucose-6-phosphate transport defect 2018-02-12 criteria provided, single submitter clinical testing

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