ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)

dbSNP: rs886053793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373845 SCV000408607 uncertain significance Schinzel-Giedion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057446 SCV002327527 likely benign not provided 2022-10-07 criteria provided, single submitter clinical testing

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