ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3043+5G>A

dbSNP: rs751822337
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542793 SCV001760422 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided clinical testing

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