ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.238C>T (p.Arg80Ter)

dbSNP: rs111033664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022070 SCV000485569 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022070 SCV005058860 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-03-20 criteria provided, single submitter clinical testing

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