ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro)

dbSNP: rs772980661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999249 SCV001155776 likely pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003448357 SCV004175959 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP,PP3

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