ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=)

gnomAD frequency: 0.00055  dbSNP: rs141805017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193964 SCV000249313 uncertain significance not specified 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV000923003 SCV001068456 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000923003 SCV001819613 likely benign not provided 2019-05-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000923003 SCV002496757 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7

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