ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital RCV003330360 SCV004037446 pathogenic Ellis-van Creveld syndrome no assertion criteria provided literature only

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