ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.792-1G>C

dbSNP: rs1603255224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV001827124 SCV002097180 likely pathogenic Pulmonary hypertension, primary, 1 2018-12-01 criteria provided, single submitter literature only
OMIM RCV000984863 SCV001132753 pathogenic Coxopodopatellar syndrome 2019-12-27 no assertion criteria provided literature only

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