ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.[388C>T];[657del]

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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 Vision Research, Yonsei University College of Medicine RCV001263171 SCV001371859 likely pathogenic Leber congenital amaurosis 2020-07-09 criteria provided, single submitter clinical testing

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