ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)

dbSNP: rs397507475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785377 SCV002026402 pathogenic Cardiofaciocutaneous syndrome 1 2021-10-11 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1_MOD, PM5_STR, PM2_SUP, PP3

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