ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)

gnomAD frequency: 0.00007  dbSNP: rs770667508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034867 SCV001198167 likely benign RASopathy 2023-11-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819738 SCV002070067 uncertain significance not specified 2020-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030937 SCV003752844 uncertain significance Cardiovascular phenotype 2021-03-26 criteria provided, single submitter clinical testing The c.2126G>A (p.R709Q) alteration is located in exon 13 (coding exon 13) of the CBL gene. This alteration results from a G to A substitution at nucleotide position 2126, causing the arginine (R) at amino acid position 709 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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