ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.5455G>A (p.Val1819Ile)

gnomAD frequency: 0.00009  dbSNP: rs370453419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118908 SCV003787523 benign not provided 2022-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946434 SCV004757842 likely benign TENM3-related disorder 2022-02-03 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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