ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.128G>C (p.Arg43Thr)

gnomAD frequency: 0.79283  dbSNP: rs7177192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116558 SCV000150516 benign not specified 2013-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371367 SCV000390907 benign Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554577 SCV001775832 benign Microcephaly 4, primary, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001711382 SCV001943529 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711382 SCV005296353 benign not provided criteria provided, single submitter not provided

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