Evidence Repository

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Variant: CA351736 222774

VCEP: RASopathy VCEP

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See Report	Preferred Variant Title	Classification	Condition	Published Date	Version	Criteria Specification	Gene
View	NM_002880.3(RAF1):c.779C>T (p.Thr260Ile)	Uncertain Significance	RASopathy	2020-03-09	1.1	-	RAF1
View	NM_002880.3(RAF1):c.779C>T (p.Thr260Ile)	Uncertain Significance	RASopathy	2020-03-09	1.0	-	RAF1

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