ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=)

gnomAD frequency: 0.00004  dbSNP: rs772959811
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 RCV002146767 SCV002411756 likely benign Achondrogenesis, type IA 2024-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809771 SCV005432029 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing TRIP11: BP4, BP7

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