ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.1815T>G (p.Asp605Glu) (rs397507480)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037927 SCV000061591 likely pathogenic Cardio-facio-cutaneous syndrome 2012-10-17 criteria provided, single submitter clinical testing The Asp565Glu variant in BRAF has been reported in one individual with clinical features of Cardio-facio-cutaneous syndrome (CFC; Gripp 2007). This variant was reported to have occurred de novo. In summary, this variant is likely pathogen ic, though additional studies are required to fully establish its clinical signi ficance.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000207514 SCV000263068 likely pathogenic not provided 2015-07-22 criteria provided, single submitter clinical testing

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