ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) (rs1555930118)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626240 SCV000746890 likely pathogenic ALG12-congenital disorder of glycosylation 2017-12-18 criteria provided, single submitter clinical testing
Medical Genetics Laboratory,Bambino Gesù Children's Hospital RCV000626240 SCV000928210 likely pathogenic ALG12-congenital disorder of glycosylation no assertion criteria provided clinical testing

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