ClinVar Miner

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

gnomAD frequency: 0.00067  dbSNP: rs3744824
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Total submissions: 4
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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 RCV000516570 SCV000615150 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864285 SCV001005066 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000864285 SCV001848655 benign not provided 2021-03-29 criteria provided, single submitter clinical testing

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