ClinVar Miner

Submissions for variant NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Raphael Recanati Genetics Institute,Rabin Medical Center RCV001507332 SCV001653689 likely pathogenic Polydactyly; Heart, malformation of; Abnormal vertebral morphology; Hypoplastic left heart syndrome no assertion criteria provided clinical testing This variant, NM_014209.2:c.757G>T, was observed in compound heterozygosity with NM_014209.2:c.350del.

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