ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1449G>A (p.Gly483=)

gnomAD frequency: 0.00024  dbSNP: rs142810509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633675 SCV000754936 likely benign Multiple gastrointestinal atresias 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702698 SCV005434601 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702698 SCV001928175 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702698 SCV001967918 likely benign not provided no assertion criteria provided clinical testing

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