ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.570A>G (p.Thr190=)

gnomAD frequency: 0.00002  dbSNP: rs565292434
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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 RCV000892564 SCV001036444 benign Multiple gastrointestinal atresias 2024-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957973 SCV004775581 likely benign TTC7A-related disorder 2020-01-07 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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