ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002841060 SCV003619308 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.10335G>T (p.R3445S) alteration is located in exon 43 (coding exon 43) of the KMT2C gene. This alteration results from a G to T substitution at nucleotide position 10335, causing the arginine (R) at amino acid position 3445 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135246 SCV003812618 uncertain significance Kleefstra syndrome 2 2021-07-07 criteria provided, single submitter clinical testing

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