ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5260+24T>C

gnomAD frequency: 0.28783  dbSNP: rs2273182
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001535319 SCV001752323 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838680 SCV002098783 benign Achondrogenesis, type IA 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838681 SCV002098784 benign Odontochondrodysplasia 1 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001535319 SCV005291105 benign not provided criteria provided, single submitter not provided

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