ClinVar Miner

Submissions for variant NM_001098816.3(TENM4):c.5612C>G (p.Pro1871Arg)

gnomAD frequency: 0.00090  dbSNP: rs199973967
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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 RCV000971333 SCV001118974 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971333 SCV004131180 benign not provided 2025-02-01 criteria provided, single submitter clinical testing TENM4: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000971333 SCV005412422 uncertain significance not provided 2024-08-27 criteria provided, single submitter clinical testing BS2
PreventionGenetics, part of Exact Sciences RCV003906015 SCV004720071 likely benign TENM4-related disorder 2023-05-09 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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