ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.1233G>C (p.Met411Ile)

gnomAD frequency: 0.00245  dbSNP: rs116093409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342564 SCV000390915 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502331 SCV000593834 likely benign not specified 2015-09-23 criteria provided, single submitter clinical testing
Invitae RCV000965971 SCV001113254 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910189 SCV004724843 likely benign KNL1-related condition 2019-11-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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