ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.385A>T (p.Met129Leu)

dbSNP: rs193922248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029808 SCV000052463 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507148 SCV000603782 likely pathogenic not specified 2017-03-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480036 SCV004224250 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing BP5, PM2

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