ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.127G>A (p.Val43Met)

dbSNP: rs376754460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences RCV000590850 SCV000693884 likely pathogenic PMM2-congenital disorder of glycosylation 2017-07-15 criteria provided, single submitter clinical testing

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