ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) (rs606231228)

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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 RCV000191066 SCV000245457 pathogenic Rasopathy 2014-04-04 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 20-year-old male with autism, intellectual disability, seizure disorder, short stature, hypoplastic corpus callosum, crouched gait, lordosis, scoliosis
OMIM RCV000022682 SCV000043971 pathogenic Noonan syndrome 7 2009-04-01 no assertion criteria provided literature only
GeneReviews RCV000208560 SCV000264343 pathogenic Noonan syndrome 1 2016-02-25 no assertion criteria provided literature only

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