ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131391 SCV003812605 uncertain significance Kleefstra syndrome 2 2019-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529242 SCV004106068 uncertain significance KMT2C-related disorder 2022-10-26 criteria provided, single submitter clinical testing The KMT2C c.7133C>G variant is predicted to result in the amino acid substitution p.Thr2378Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-151877812-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003778722 SCV004631952 likely benign not provided 2023-04-17 criteria provided, single submitter clinical testing

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