ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1194-9C>T

gnomAD frequency: 0.00005  dbSNP: rs200322423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428423 SCV000528180 likely benign not provided 2018-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083545 SCV001005370 likely benign RASopathy 2023-12-09 criteria provided, single submitter clinical testing

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