ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13274C>T (p.Ala4425Val)

gnomAD frequency: 0.00001  dbSNP: rs752531267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900260 SCV002146249 benign Kabuki syndrome 2023-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538564 SCV004718005 uncertain significance KMT2D-related disorder 2024-02-06 no assertion criteria provided clinical testing The KMT2D c.13274C>T variant is predicted to result in the amino acid substitution p.Ala4425Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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