ClinVar Miner

Submissions for variant NC_000002.12:g.169477282_169483199del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV003150847 SCV003838996 pathogenic Bardet-Biedl syndrome 2023-02-18 criteria provided, single submitter clinical testing

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