ClinVar Miner

Submissions for variant NM_002417.5(MKI67):c.8080G>A (p.Glu2694Lys)

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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 RCV004422212 SCV004905691 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.8080G>A (p.E2694K) alteration is located in exon 13 (coding exon 12) of the MKI67 gene. This alteration results from a G to A substitution at nucleotide position 8080, causing the glutamic acid (E) at amino acid position 2694 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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