ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)

dbSNP: rs886044720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408466 SCV000281797 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408466 SCV001548014 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485454 SCV002791438 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-12-07 criteria provided, single submitter clinical testing

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