ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) (rs397507476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000207509 SCV000057218 pathogenic not provided 2012-06-19 criteria provided, single submitter clinical testing The K499N missense mutation in the BRAF gene has been reported previously in association with Cardio-Facio-Cutaneous (CFC) Syndrome (Schultz et al., 2008). Schultz et al., identified the K499N mutation in two probands, one of whom was previously diagnosed with Costello syndrome. Another missense mutation at the same codon (K499E) has also been reported in association with Cardio-Facio-Cutaneous (CFC) Syndrome (Niihori et al. 2006). The variant is found in NOONAN panel(s).
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000207509 SCV000263064 likely pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing

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