ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3694G>A (p.Val1232Met)

gnomAD frequency: 0.00797  dbSNP: rs17248287
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001510896 SCV001718047 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001510896 SCV001753974 benign not provided 2018-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510896 SCV005275897 benign not provided criteria provided, single submitter not provided

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