ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2587+2T>C (rs1557783989)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Core Molecular Diagnostic Lab, McGill University Health Centre RCV000722087 SCV000852060 pathogenic Stargardt disease 1 2018-11-13 criteria provided, single submitter clinical testing

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