ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro)

dbSNP: rs1131691351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492921 SCV000581933 uncertain significance not provided 2024-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816726 SCV005070516 likely pathogenic Retinal dystrophy 2016-01-01 no assertion criteria provided clinical testing

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