ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2010A>T (p.Thr670=)

dbSNP: rs137989705
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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 RCV002120166 SCV002400885 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543811 SCV004773864 likely benign TMEM67-related disorder 2020-10-27 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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