ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1555-2A>C

dbSNP: rs2101079462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001839464 SCV002099529 likely pathogenic Stargardt disease 2022-03-01 criteria provided, single submitter clinical testing in combimation with p.Ser1099Pro and p.Asn1868Ile

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