ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1203C>T (p.Thr401=)

dbSNP: rs370130654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037906 SCV000061568 likely benign not specified 2011-11-25 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located within the splice consensus sequen ce.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813334 SCV002060459 likely benign Noonan syndrome and Noonan-related syndrome 2021-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054680 SCV002393479 likely benign RASopathy 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345296 SCV002651148 likely benign Cardiovascular phenotype 2022-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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