ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)

gnomAD frequency: 0.00001  dbSNP: rs137853860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000020294 SCV000267331 likely pathogenic UDPglucose-4-epimerase deficiency 2016-03-18 criteria provided, single submitter reference population
GeneReviews RCV000020294 SCV000040658 pathogenic UDPglucose-4-epimerase deficiency 2021-02-24 no assertion criteria provided literature only Account for 67% of alleles reported in a cohort of asymptomatic Koreans with peripheral epimerase deficiency galactosemia

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