ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)

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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 RCV004796960 SCV005416627 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3

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