ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)

gnomAD frequency: 0.00002  dbSNP: rs1178042413
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817635 SCV000958204 uncertain significance Achondrogenesis, type IA 2021-09-01 criteria provided, single submitter clinical testing

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