ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.663A>G (p.Leu221=)

gnomAD frequency: 0.00001  dbSNP: rs1447964928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002137142 SCV002418686 likely benign Achondrogenesis, type IA 2021-07-02 criteria provided, single submitter clinical testing

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