ClinVar Miner

Submissions for variant NM_170754.4(TNS2):c.3352A>G (p.Thr1118Ala)

gnomAD frequency: 0.00706  dbSNP: rs117152710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114936 SCV002441437 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002114936 SCV002503345 uncertain significance not provided 2020-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002114936 SCV004133404 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TNS2: BP4
PreventionGenetics, part of Exact Sciences RCV003978818 SCV004789909 likely benign TNS2-related disorder 2020-09-25 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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