ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) (rs1196317554)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000515910 SCV000611937 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research

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