ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5013C>T (p.His1671=)

gnomAD frequency: 0.00029  dbSNP: rs146637907
Minimum review status: Collection method:
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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 RCV000503238 SCV000597746 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000887301 SCV001030851 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing

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