ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) (rs28940885)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078697 SCV000110557 other not provided 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV000003866 SCV001113707 likely benign UDPglucose-4-epimerase deficiency 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000003866 SCV000024031 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000003866 SCV000040661 pathologic UDPglucose-4-epimerase deficiency 2011-01-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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