ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.648del (p.Ser216fs) (rs869312175)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210309 SCV000259071 likely pathogenic Leber congenital amaurosis 2014-05-09 no assertion criteria provided clinical testing

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