ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)

gnomAD frequency: 0.00001  dbSNP: rs1479064739
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 RCV001223435 SCV001395584 uncertain significance Achondrogenesis, type IA 2021-08-26 criteria provided, single submitter clinical testing

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