ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)

gnomAD frequency: 0.00001  dbSNP: rs1187245939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665751 SCV000789919 uncertain significance PMM2-congenital disorder of glycosylation 2017-03-22 criteria provided, single submitter clinical testing

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