ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1317A>G (p.Glu439=)

dbSNP: rs1260783301
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002089805 SCV002329213 likely benign Achondrogenesis, type IA 2025-01-13 criteria provided, single submitter clinical testing

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