ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu)

gnomAD frequency: 0.00083  dbSNP: rs199767066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499721 SCV000593847 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing
New York Genome Center RCV002275042 SCV002564257 uncertain significance Microcephaly 4, primary, autosomal recessive 2021-10-02 criteria provided, single submitter clinical testing

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