ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)

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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 RCV004797355 SCV005416802 likely 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+PP3_Strong+PM3+PP4

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