ClinVar Miner

Submissions for variant NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) (rs397509425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623944 SCV000742877 pathogenic Inborn genetic diseases 2017-08-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Genetic Services Laboratory, University of Chicago RCV000503216 SCV000595011 likely pathogenic Muscular dystrophy-dystroglycanopathy 2017-05-23 criteria provided, single submitter clinical testing
OMIM RCV000054436 SCV000082913 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 2013-07-11 no assertion criteria provided literature only
OMIM RCV000054437 SCV000082914 pathogenic Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2013-07-11 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000200261 SCV000255381 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2014-01-28 criteria provided, single submitter clinical testing

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