ClinVar Miner

Submissions for variant NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del

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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 RCV001264839 SCV001427247 pathogenic Bardet-Biedl syndrome 2020-01-05 criteria provided, single submitter clinical testing

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