ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3300C>T (p.His1100=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003413446 SCV004143017 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SETBP1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003413446 SCV004426890 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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