ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV004566506 SCV005049500 likely pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided research

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