ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=)

gnomAD frequency: 0.00001  dbSNP: rs1278413331
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995242 SCV001149315 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV002067608 SCV002360482 likely benign Achondrogenesis, type IA 2022-06-20 criteria provided, single submitter clinical testing

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