ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2052G>C (p.Arg684=)

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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 RCV002909934 SCV003265748 likely benign Multiple gastrointestinal atresias 2022-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916633 SCV004735092 likely benign TTC7A-related disorder 2023-07-12 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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