ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val)

gnomAD frequency: 0.00405  dbSNP: rs74970544
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195230 SCV000246859 likely benign not specified 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886922 SCV001030452 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115952 SCV001273968 likely benign Microcephaly 4, primary, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000886922 SCV002562437 likely benign not provided 2022-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000886922 SCV004136348 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing KNL1: BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000886922 SCV001799415 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000195230 SCV001965133 benign not specified no assertion criteria provided clinical testing

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