ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) (rs768528387)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504653 SCV000599052 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research

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