ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) (rs1555453238)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668971 SCV000793658 uncertain significance Congenital disorder of glycosylation, type Ia 2017-08-22 criteria provided, single submitter clinical testing
Mendelics RCV000668971 SCV001139936 pathogenic Congenital disorder of glycosylation, type Ia 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198788 SCV001369783 pathogenic Global developmental delay; Nystagmus; Absent speech; Strabismus; Muscular hypotonia 2020-03-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS2,PM2. This variant was detected in heterozygous state.

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