ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1289-8A>T

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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 RCV002741055 SCV003016523 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534186 SCV004708572 likely benign TMEM67-related disorder 2020-08-24 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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