ClinVar Miner

Submissions for variant NM_001388492.1(HTT):c.54GCA[30] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)

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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 Human Genetics, University of Leipzig Medical Center RCV004759669 SCV005368488 pathogenic Huntington disease 2023-09-06 criteria provided, single submitter clinical testing

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