ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.771-6C>A

gnomAD frequency: 0.00001  dbSNP: rs1160382019
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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 RCV002193749 SCV002490615 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951312 SCV004758377 likely benign TMEM231-related disorder 2019-11-19 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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