ClinVar Miner

Submissions for variant NM_004429.5(EFNB1):c.635_636del (p.Val212fs)

dbSNP: rs2080473382
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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 RCV001263202 SCV001437562 likely pathogenic Craniofrontonasal syndrome criteria provided, single submitter clinical testing

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