ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1543C>T (p.Arg515Trp)

gnomAD frequency: 0.00167  dbSNP: rs144064667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967529 SCV001114918 likely benign Multiple gastrointestinal atresias 2023-12-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711468 SCV005263929 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003936044 SCV004747695 likely benign TTC7A-related disorder 2023-05-22 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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