ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.203A>C (p.His68Pro) (rs193922247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723445 SCV000227032 likely pathogenic not provided 2014-10-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029806 SCV000052461 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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