ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1993-11T>C

gnomAD frequency: 0.00009  dbSNP: rs750297886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571782 SCV001796315 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072221 SCV002391330 likely benign RASopathy 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506678 SCV002807765 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2021-12-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001571782 SCV004562695 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782765 SCV005394044 likely benign not specified 2024-09-04 criteria provided, single submitter clinical testing Variant summary: BRAF c.1993-11T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. The variant allele was found at a frequency of 3.7e-05 in 246058 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1993-11T>C in individuals affected with Cardiofaciocutaneous Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1205197). Based on the evidence outlined above, the variant was classified as likely benign.

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