ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1206C>T (p.Pro402=)

dbSNP: rs201758035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586166 SCV000698331 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Invitae RCV002061979 SCV002454845 likely benign RASopathy 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350415 SCV002652045 likely benign Cardiovascular phenotype 2019-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003983135 SCV004799735 likely benign BRAF-related condition 2021-10-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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