ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3693C>T (p.Asp1231=)

gnomAD frequency: 0.00017  dbSNP: rs144750345
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 RCV001421359 SCV001623883 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001421359 SCV004153357 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7

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