ClinVar Miner

Submissions for variant NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)

dbSNP: rs2491893358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004723269 SCV005334650 uncertain significance not provided 2023-08-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Undiagnosed Diseases Network, NIH RCV003329220 SCV004035080 uncertain significance KIF5B-related osteogenesis imperfecta syndrome 2021-08-25 no assertion criteria provided clinical testing

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