ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)

gnomAD frequency: 0.00123  dbSNP: rs148376598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194550 SCV000249156 likely benign not specified 2019-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000924275 SCV001069786 benign not provided 2024-02-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000194550 SCV001879344 benign not specified 2021-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955173 SCV004770357 likely benign TGM6-related disorder 2019-12-09 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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