ClinVar Miner

Submissions for variant NM_052988.4:c.(87+1_88-1)_(232+1_233-1)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 RCV003329151 SCV004035934 pathogenic Al Kaissi syndrome criteria provided, single submitter clinical testing

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