ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1017-2del

dbSNP: rs1553240165
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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 RCV000578418 SCV000680259 pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2017-10-12 criteria provided, single submitter clinical testing

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