ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)

gnomAD frequency: 0.00001  dbSNP: rs992324423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab, University Of California Los Angeles RCV000515992 SCV000612124 uncertain significance Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515992 SCV001479703 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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