ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV002286444 SCV002576357 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 criteria provided, single submitter clinical testing

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