ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.321-4C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002681846 SCV002992361 likely benign RASopathy 2023-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066916 SCV003626374 uncertain significance Cardiovascular phenotype 2022-07-27 criteria provided, single submitter clinical testing The c.321-4C>G intronic alteration consists of a C to G substitution 4 nucleotides before coding exon 3 in the RAF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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