ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser)

gnomAD frequency: 0.00055  dbSNP: rs142834327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786101 SCV002027910 benign not provided 2021-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001786101 SCV002374460 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001786101 SCV005215320 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV004998958 SCV005621565 benign not specified 2024-02-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536311 SCV004755234 likely benign SETBP1-related disorder 2021-07-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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