ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.277A>G (p.Lys93Glu)

gnomAD frequency: 0.00001  dbSNP: rs1379104498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Xu Lab, Pediatric Cardiology, Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine RCV001175383 SCV001244861 likely pathogenic Conotruncal defect 2020-04-23 criteria provided, single submitter case-control

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