ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)

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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 RCV004796570 SCV005416408 uncertain significance Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i criteria provided, single submitter clinical testing PM2_Supporting+PM3

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