ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.359C>T (p.Thr120Ile)

gnomAD frequency: 0.00076  dbSNP: rs143244650
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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 RCV002908808 SCV003253271 likely benign not provided 2024-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002908808 SCV005410262 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943547 SCV004772680 likely benign TMPRSS6-related disorder 2024-02-06 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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