ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2894A>T (p.Asn965Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004596659 SCV005088710 likely pathogenic Cone-rod dystrophy 3 2024-07-30 criteria provided, single submitter clinical testing

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