ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1338G>A (p.Ser446=)

gnomAD frequency: 0.00001  dbSNP: rs765215499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106240 SCV002438373 likely benign RASopathy 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382405 SCV002690398 likely benign Cardiovascular phenotype 2022-07-17 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.
Fulgent Genetics, Fulgent Genetics RCV002500167 SCV002807903 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2022-02-24 criteria provided, single submitter clinical testing

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