ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1938-1G>A

gnomAD frequency: 0.00001  dbSNP: rs61751263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008351 SCV000028559 pathogenic Severe early-childhood-onset retinal dystrophy 1999-06-01 no assertion criteria provided literature only
OMIM RCV000008352 SCV000028560 pathogenic Retinitis pigmentosa 19 1999-06-01 no assertion criteria provided literature only
Retina International RCV000085450 SCV000117587 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504968 SCV000598945 pathogenic Macular dystrophy 2015-01-01 no assertion criteria provided research

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