ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.1299T>C (p.Cys433=)

gnomAD frequency: 0.00349  dbSNP: rs35235972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000948950 SCV001095177 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000948950 SCV001814058 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948950 SCV004136341 benign not provided 2022-11-01 criteria provided, single submitter clinical testing KNL1: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000116559 SCV000150517 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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