ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) (rs3744824)

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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 RCV000147457 SCV000194890 uncertain significance Schinzel-Giedion syndrome 2013-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516570 SCV000615150 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000864285 SCV001005066 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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