ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000993789 SCV001146961 pathogenic Amelia, autosomal recessive 2020-01-21 no assertion criteria provided literature only
OMIM RCV000993790 SCV001146962 pathogenic Ischiopatellar dysplasia 2020-01-21 no assertion criteria provided literature only

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