ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.*1A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003604607 SCV004563248 uncertain significance Joubert syndrome 3 2023-09-06 criteria provided, single submitter clinical testing

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