ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu)

gnomAD frequency: 0.00117  dbSNP: rs117304542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514406 SCV000609933 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080187 SCV000630303 benign Multiple gastrointestinal atresias 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805128 SCV002050999 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514406 SCV004146062 benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTC7A: BP4, BS1, BS2

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