ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3165C>T (p.His1055=)

gnomAD frequency: 0.00013  dbSNP: rs147329335
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
Invitae RCV001494812 SCV001699477 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001494812 SCV004153365 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7

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