ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.280+7_280+8del

dbSNP: rs561658895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503940 SCV000596530 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000527512 SCV000649897 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing

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