ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr)

gnomAD frequency: 0.00162  dbSNP: rs187007187
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ClinVar version:
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 RCV000116574 SCV000150532 uncertain significance not provided 2013-07-30 criteria provided, single submitter clinical testing
Invitae RCV000116574 SCV001059756 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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