ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.165C>T (p.Asn55=)

gnomAD frequency: 0.00125  dbSNP: rs201818761
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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 RCV000327090 SCV000390909 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503377 SCV000593829 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Invitae RCV000907026 SCV001051703 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907026 SCV002822173 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing KNL1: BP4, BP7

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