ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)

dbSNP: rs1553186509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504998 SCV000599011 likely pathogenic Congenital stationary night blindness 2015-01-01 no assertion criteria provided research

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