ClinVar Miner

Submissions for variant NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly)

dbSNP: rs2080468583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV001263204 SCV001437564 likely pathogenic Craniofrontonasal syndrome 2017-07-17 criteria provided, single submitter clinical testing

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