ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.280G>A (p.Val94Met) (rs121908047)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020292 SCV000485820 likely pathogenic UDPglucose-4-epimerase deficiency 2016-06-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727367 SCV000707913 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
OMIM RCV000003867 SCV000024032 pathogenic Galactose epimerase deficiency, severe 2001-06-08 no assertion criteria provided literature only
GeneReviews RCV000020292 SCV000040655 pathologic UDPglucose-4-epimerase deficiency 2011-01-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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