ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) (rs387906824)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000023149 SCV000800680 uncertain significance Congenital disorder of glycosylation, type Ia 2018-03-24 criteria provided, single submitter clinical testing
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000023149 SCV001435293 likely pathogenic Congenital disorder of glycosylation, type Ia 2020-04-02 criteria provided, single submitter clinical testing
OMIM RCV000023149 SCV000044440 pathogenic Congenital disorder of glycosylation, type Ia 2011-09-21 no assertion criteria provided literature only

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