ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)

gnomAD frequency: 0.00004  dbSNP: rs587784380
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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 RCV000147455 SCV000194888 uncertain significance Schinzel-Giedion syndrome 2014-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850002 SCV002286504 benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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