ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn)

gnomAD frequency: 0.00204  dbSNP: rs201973930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147469 SCV000194905 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425713 SCV000511154 likely benign not provided 2016-11-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000425713 SCV001898928 benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000425713 SCV002351319 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000425713 SCV005215322 likely benign not provided criteria provided, single submitter not provided

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