ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1418del (p.Met473fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002302856 SCV002589117 pathogenic Leber congenital amaurosis 3 2022-11-04 criteria provided, single submitter clinical testing

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