ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3651T>C (p.His1217=)

gnomAD frequency: 0.00154  dbSNP: rs148914897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502660 SCV000597769 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000912848 SCV001057971 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000912848 SCV001764250 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing

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