ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4929C>T (p.Asp1643=)

gnomAD frequency: 0.00234  dbSNP: rs147939592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966688 SCV001114033 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819070 SCV002069393 likely benign not specified 2018-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966688 SCV004153350 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7

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