ClinVar Miner

Submissions for variant NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000211040 SCV000267675 likely pathogenic Severe early-childhood-onset retinal dystrophy criteria provided, single submitter research identified in compound heterozygous state in affected individual/s with macular isease

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