ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu)

gnomAD frequency: 0.00054  dbSNP: rs548721041
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 RCV002119441 SCV002394001 likely benign Achondrogenesis, type IA 2024-11-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277018 SCV002567055 likely benign Connective tissue disorder 2020-07-09 criteria provided, single submitter clinical testing

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