ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu)

gnomAD frequency: 0.00271  dbSNP: rs185916020
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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 RCV000895185 SCV001039214 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000895185 SCV001989523 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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