ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) (rs193302889)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000357831 SCV000367678 uncertain significance Glycogen storage disease, type I 2016-06-14 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059141 SCV000090670 not provided not provided no assertion provided not provided
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414827 SCV000492606 likely pathogenic Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia 2016-05-30 no assertion criteria provided clinical testing
Counsyl RCV000675174 SCV000800798 likely pathogenic Glucose-6-phosphate transport defect 2017-12-06 no assertion criteria provided clinical testing

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