ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)

dbSNP: rs1553192715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000498003 SCV000590883 pathogenic Severe early-childhood-onset retinal dystrophy 2017-06-19 criteria provided, single submitter clinical testing This heterozygous variant in the ABCA4 gene (AR transmission) was identified in a patient with a strong suspicion of Stargardt disease. However, despite extensive searches in the ABCA4 exome data, we were not able to identify a second variant in this gene.
Institute of Medical Molecular Genetics, University of Zurich RCV000498003 SCV001548035 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing

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