ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu)

gnomAD frequency: 0.00510  dbSNP: rs73394756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888837 SCV001032491 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000888837 SCV001882627 benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116550 SCV000150508 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000888837 SCV001800105 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000116550 SCV001975545 benign not specified no assertion criteria provided clinical testing

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