ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.54G>A (p.Thr18=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003456637 SCV004185007 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing GALE: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003502737 SCV004367065 likely benign UDPglucose-4-epimerase deficiency 2023-11-24 criteria provided, single submitter clinical testing

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