ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) (rs148979330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320467 SCV000358658 uncertain significance Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379588 SCV000358659 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing

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