ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1646G>T (p.Gly549Val)

dbSNP: rs387906959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023603 SCV000044894 pathogenic COG6-ongenital disorder of glycosylation 2013-07-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701483 SCV001928630 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701483 SCV001974817 pathogenic not provided no assertion criteria provided clinical testing

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