ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1060-331G>C

dbSNP: rs2132347271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244286 SCV002512741 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-03-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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