ClinVar Miner

Submissions for variant GRCh37/hg19 11p15.1(chr11:18418095-18422557)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV001254093 SCV001430012 pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2020-06-15 criteria provided, single submitter clinical testing

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