ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2211G>A (p.Ala737=)

gnomAD frequency: 0.00177  dbSNP: rs142959785
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633677 SCV000754938 benign Multiple gastrointestinal atresias 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531915 SCV001747245 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001531915 SCV001929147 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531915 SCV001966508 likely benign not provided no assertion criteria provided clinical testing

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