ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) (rs281864980)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626961 SCV000747664 likely pathogenic Coxa plana; Juvenile osteochondrosis of spine 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762881 SCV000893262 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2018-10-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199060 SCV001370055 pathogenic Short stature; Deficiency of N-acetylglucosamine-1-phosphotransferase; Dysostosis multiplex; Thoracolumbar kyphoscoliosis 2019-01-18 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.
GeneReviews RCV000032300 SCV000055944 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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