ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1095G>T (p.Val365=)

gnomAD frequency: 0.00279  dbSNP: rs113844968
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536954 SCV000630302 benign Multiple gastrointestinal atresias 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001700202 SCV003916099 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003905345 SCV004722837 likely benign TTC7A-related disorder 2019-06-27 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700202 SCV001926802 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700202 SCV001971694 likely benign not provided no assertion criteria provided clinical testing

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