ClinVar Miner

Submissions for variant NM_181714.4(LCA5):c.0_-298+211del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001020 SCV000021170 pathogenic Leber congenital amaurosis 5 2007-07-01 no assertion criteria provided literature only
GeneReviews RCV000001020 SCV000087251 pathologic Leber congenital amaurosis 5 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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