ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=)

gnomAD frequency: 0.00107  dbSNP: rs114942206
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000499593 SCV000597770 uncertain significance not specified 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000889871 SCV001033581 benign not provided 2025-01-21 criteria provided, single submitter clinical testing

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