ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.682T>C (p.Leu228=)

gnomAD frequency: 0.01638  dbSNP: rs115070660
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118329 SCV000311282 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001582588 SCV001811139 likely benign not provided 2021-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582588 SCV002386964 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582588 SCV005261612 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118329 SCV000152717 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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