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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