ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) (rs397507484)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000033336 SCV000196695 likely pathogenic Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824928 SCV000965960 likely pathogenic Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing
GenomeConnect - CFC International RCV000824928 SCV001245257 not provided Cardio-facio-cutaneous syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 08-23-2017 by Lab or GTR ID 26957. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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