ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133923 SCV003812601 uncertain significance Kleefstra syndrome 2 2019-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004636707 SCV005133470 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.461G>C (p.R154T) alteration is located in exon 4 (coding exon 4) of the KMT2C gene. This alteration results from a G to C substitution at nucleotide position 461, causing the arginine (R) at amino acid position 154 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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