ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1348G>A (p.Val450Met)

gnomAD frequency: 0.00136  dbSNP: rs114276698
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081049 SCV000754933 benign Multiple gastrointestinal atresias 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000633672 SCV001152256 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000633672 SCV001872873 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28930861)
PreventionGenetics, part of Exact Sciences RCV003928056 SCV004738822 likely benign TTC7A-related disorder 2024-02-07 criteria provided, single submitter 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000633672 SCV001797969 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000633672 SCV001928314 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000633672 SCV001975227 likely benign not provided no assertion criteria provided clinical testing

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