ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) (rs11082414)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147472 SCV000194908 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291334 SCV000408585 benign Schinzel-Giedion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713193 SCV000843779 benign not provided 2018-05-07 criteria provided, single submitter clinical testing

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