ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.189del (p.Lys63fs)

dbSNP: rs1057516815
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409395 SCV000486270 likely pathogenic PMM2-congenital disorder of glycosylation 2016-04-27 criteria provided, single submitter clinical testing

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