ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.111G>A (p.Ser37=) (rs727502906)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519506 SCV000616395 likely benign Rasopathy 2017-04-03 reviewed by expert panel curation The c.111G>A (p.Ser37=) variant in BRAF is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150216 SCV000197179 likely benign not specified 2014-03-07 criteria provided, single submitter clinical testing Ser37Ser in exon 1 of BRAF: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and it is not located wit hin the splice consensus sequence.
GeneDx RCV000157665 SCV000512270 likely benign not provided 2016-06-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000157665 SCV000207630 uncertain significance not provided 2015-01-15 no assertion criteria provided clinical testing

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