ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1617G>A (p.Ser539=)

gnomAD frequency: 0.00189  dbSNP: rs112085853
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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 RCV000633670 SCV000754931 benign Multiple gastrointestinal atresias 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928055 SCV004743136 likely benign TTC7A-related disorder 2019-10-28 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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