ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.906_907del (p.Asn302fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466248 SCV004209259 pathogenic Leber congenital amaurosis 2 2023-07-06 criteria provided, single submitter clinical testing

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