ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)

dbSNP: rs1051340
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707675 SCV000836780 uncertain significance Achondrogenesis, type IA 2021-08-13 criteria provided, single submitter clinical testing

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