ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4728C>T (p.His1576=)

gnomAD frequency: 0.00989  dbSNP: rs34562250
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 RCV000887642 SCV001031213 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000887642 SCV001823413 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000887642 SCV005206636 likely benign not provided criteria provided, single submitter not provided

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