ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4185G>T (p.Gln1395His)

gnomAD frequency: 0.00350  dbSNP: rs115418729
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 RCV000972567 SCV001120288 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000972567 SCV001908546 benign not provided 2021-02-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972567 SCV004153354 benign not provided 2023-09-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BS1, BS2

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