ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)

dbSNP: rs886043030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819717 SCV002072246 uncertain significance not specified 2017-10-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV004761862 SCV005368281 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-08-13 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP,PP3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007816 SCV001167507 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O no assertion criteria provided research

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