ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.753C>T (p.Tyr251=)

gnomAD frequency: 0.00001  dbSNP: rs367543261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241856 SCV000302731 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801902 SCV002047808 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-03-31 criteria provided, single submitter clinical testing

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