ClinVar Miner

Submissions for variant NM_001070.5(TUBG1):c.1029C>G (p.Arg343=)

gnomAD frequency: 0.58061  dbSNP: rs1045710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440728 SCV000519651 benign not specified 2016-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062364 SCV002421554 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244882 SCV002514464 benign Complex cortical dysplasia with other brain malformations 4 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002062364 SCV005250454 benign not provided criteria provided, single submitter not provided

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