ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.969T>G (p.Ser323=)

gnomAD frequency: 0.00001  dbSNP: rs768358054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812597 SCV002049776 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505190 SCV004246149 likely benign Achondrogenesis, type IA 2023-02-06 criteria provided, single submitter clinical testing

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