ClinVar Miner

Submissions for variant NC_000006.11:g.5610223_5726369del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000578146 SCV000845723 likely pathogenic Spastic paraplegia 77, autosomal recessive 2018-06-13 criteria provided, single submitter clinical testing
OMIM RCV000578146 SCV000679999 pathogenic Spastic paraplegia 77, autosomal recessive 2018-01-29 no assertion criteria provided literature only

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