ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.1257G>A (p.Thr419=)

gnomAD frequency: 0.00086  dbSNP: rs17847537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890121 SCV001033851 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000890121 SCV005322227 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975613 SCV004799439 likely benign TUB-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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