ClinVar Miner

Submissions for variant NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]

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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, University of Goettingen RCV000709615 SCV000747843 likely pathogenic Microcephaly, short stature, and limb abnormalities 2018-05-15 criteria provided, single submitter clinical testing

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