ClinVar Miner

Submissions for variant GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3

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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 RCV001004812 SCV001164305 likely pathogenic Short stature; Neurodevelopmental delay 2019-07-01 no assertion criteria provided clinical testing

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