ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.563G>T (p.Arg188Leu)

dbSNP: rs147471840
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Total submissions: 3
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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 RCV000513716 SCV000610195 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087936 SCV001111843 benign Multiple gastrointestinal atresias 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513716 SCV004146060 benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTC7A: BP4, BS1, BS2

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