ClinVar Miner

Submissions for variant NM_002899.5(RBP1):c.387_400del (p.Lys131fs) (rs587783020)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144471 SCV000189606 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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