ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)

dbSNP: rs1661175744
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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 Molecular Genetics, University of Zurich RCV001352949 SCV001548017 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing

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