ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795904 SCV005418804 pathogenic Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM3_Supporting

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