ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.1129A>G (p.Ile377Val)

gnomAD frequency: 0.00317  dbSNP: rs144726295
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500192 SCV000593833 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000500192 SCV000708556 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000879115 SCV001022127 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879115 SCV004136340 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing KNL1: BP4, BS1

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