ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5052C>T (p.Ile1684=)

gnomAD frequency: 0.00048  dbSNP: rs139368772
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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 RCV000895633 SCV001039684 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895633 SCV004153349 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003151195 SCV003839195 likely benign not specified 2022-12-02 no assertion criteria provided clinical testing

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