ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)

dbSNP: rs886041115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000258934 SCV000328956 uncertain significance Pulmonary hypertension, primary, 1 2016-09-30 criteria provided, single submitter clinical testing
OMIM RCV000984864 SCV001132754 pathogenic Coxopodopatellar syndrome 2019-12-27 no assertion criteria provided literature only

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