ClinVar Miner

Submissions for variant NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) (rs28936069)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000012475 SCV001150098 pathogenic Craniofrontonasal syndrome 2019-06-11 criteria provided, single submitter clinical testing
OMIM RCV000012475 SCV000032709 pathogenic Craniofrontonasal syndrome 2004-06-08 no assertion criteria provided literature only

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