ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5050A>G (p.Ile1684Val)

gnomAD frequency: 0.00022  dbSNP: rs146532216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000906323 SCV001050952 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968322 SCV004784245 benign TUBGCP6-related condition 2019-08-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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