ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.282G>C (p.Val94=)

dbSNP: rs146257198
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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 RCV002202761 SCV002355962 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543730 SCV004781967 likely benign TCTN2-related disorder 2019-09-04 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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