ClinVar Miner

Submissions for variant NM_015198.5(COBL):c.2072G>A (p.Arg691Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004615692 SCV005106625 uncertain significance not specified 2024-03-21 criteria provided, single submitter clinical testing The c.2072G>A (p.R691Q) alteration is located in exon 10 (coding exon 10) of the COBL gene. This alteration results from a G to A substitution at nucleotide position 2072, causing the arginine (R) at amino acid position 691 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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