ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu)

dbSNP: rs1554604833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000498407 SCV000575817 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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