ClinVar Miner

Submissions for variant NM_002417.5(MKI67):c.4817C>G (p.Thr1606Ser)

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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 RCV004104333 SCV003568736 uncertain significance not specified 2021-08-17 criteria provided, single submitter clinical testing The c.4817C>G (p.T1606S) alteration is located in exon 13 (coding exon 12) of the MKI67 gene. This alteration results from a C to G substitution at nucleotide position 4817, causing the threonine (T) at amino acid position 1606 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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