ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=)

dbSNP: rs2140116561
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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 RCV002074763 SCV002424025 likely benign Achondrogenesis, type IA 2020-11-21 criteria provided, single submitter clinical testing

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