ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) (rs587783022)

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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 RCV000144474 SCV000189609 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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