ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.549C>T (p.Ile183=)

gnomAD frequency: 0.00037  dbSNP: rs199800071
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927722 SCV001073311 likely benign Multiple gastrointestinal atresias 2024-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884809 SCV004700637 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7

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