ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1837del (p.Gln613fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814068 SCV005071272 likely pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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