ClinVar Miner

Submissions for variant NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) (rs104894804)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224877 SCV000280685 pathogenic not provided 2015-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000224877 SCV000748187 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing The R66X pathogenic variant in the EFNB1 gene has been reported previously in multiple individuals with craniofrontonasal syndrome, including in at least two individuals in whom the variant was apparently de novo (Twigg et al., 2004; Wieland et al., 2005; Twigg et al., 2006; Wallis et al., 2008; Twigg et al., 2013). This variant is predicted to cause loss of normal protein function through protein truncation (Makarov et al., 2010). The R66X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R66X as a pathogenic variant.
OMIM RCV000012481 SCV000032715 pathogenic Craniofrontonasal syndrome 2013-04-15 no assertion criteria provided literature only

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