ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) (rs80338702)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008157 SCV000220369 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2014-06-03 criteria provided, single submitter literature only
GeneReviews RCV000008157 SCV000040583 pathologic Carbohydrate-deficient glycoprotein syndrome type I 2011-04-21 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000008157 SCV000028362 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2000-08-01 no assertion criteria provided literature only

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