ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.521+1del

dbSNP: rs786205897
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Total submissions: 3
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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 RCV000172872 SCV000223861 pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2014-01-01 criteria provided, single submitter research
OMIM RCV000172872 SCV000322763 pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2016-10-11 no assertion criteria provided literature only
GeneReviews RCV000172872 SCV000494141 pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2016-06-07 no assertion criteria provided literature only

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