ClinVar Miner

Submissions for variant NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) (rs104894586)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081186 SCV000113094 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000006225 SCV000680292 likely pathogenic Congenital disorder of glycosylation type 1F 2017-12-09 criteria provided, single submitter clinical testing
OMIM RCV000006225 SCV000026407 pathogenic Congenital disorder of glycosylation type 1F 2001-12-01 no assertion criteria provided literature only

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