ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4556C>A (p.Ala1519Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003548323 SCV004266252 benign not provided 2024-02-18 criteria provided, single submitter clinical testing
GeneDx RCV003548323 SCV005372255 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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