ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.21(chr22:20036384-20045784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV001195111 SCV001334074 pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2020-04-16 no assertion criteria provided clinical testing

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