ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1918C>A (p.Pro640Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV005087561 SCV005725427 likely pathogenic Severe early-childhood-onset retinal dystrophy 2025-02-13 criteria provided, single submitter clinical testing

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