ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.165G>A (p.Met55Ile)

gnomAD frequency: 0.00001  dbSNP: rs778818507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542386 SCV001761082 uncertain significance Schinzel-Giedion syndrome 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570657 SCV003512471 likely benign not provided 2023-11-16 criteria provided, single submitter clinical testing

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