ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.698+2T>A

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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 Human Genetics, University of Goettingen RCV002571627 SCV002773884 pathogenic Macular dystrophy with central cone involvement 2022-09-09 criteria provided, single submitter clinical testing

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