ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research,Children's National Medical Center RCV000231660 SCV000265766 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2015-12-01 criteria provided, single submitter research

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