ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4558-18A>C

dbSNP: rs201561387
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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 RCV001812290 SCV001470932 likely benign not provided 2019-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505173 SCV004313092 likely benign Achondrogenesis, type IA 2024-12-18 criteria provided, single submitter clinical testing

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