ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1527+41A>G

gnomAD frequency: 0.29544  dbSNP: rs3818095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674395 SCV001887591 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838748 SCV002098785 benign Achondrogenesis, type IA 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838749 SCV002098786 benign Odontochondrodysplasia 1 2021-09-10 criteria provided, single submitter clinical testing

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