ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)

gnomAD frequency: 0.00004  dbSNP: rs374300895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147456 SCV000194889 uncertain significance Schinzel-Giedion syndrome 2013-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055928 SCV002382950 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing

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