ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His)

dbSNP: rs2056864796
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
Baylor Genetics RCV001329832 SCV001521375 uncertain significance Achondrogenesis, type IA 2019-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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