ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.751T>C (p.Trp251Arg)

gnomAD frequency: 0.00073  dbSNP: rs375649994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993323 SCV001146177 benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993323 SCV004366196 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953402 SCV004777513 likely benign TGM6-related disorder 2020-05-11 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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