ClinVar Miner

Submissions for variant GRCh37/hg19 12q12(chr12:46150008-46321670)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Angers RCV001523780 SCV001713002 pathogenic Coffin-Siris syndrome 6 2021-01-01 no assertion criteria provided clinical testing

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