ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3699G>T (p.Glu1233Asp)

dbSNP: rs759510649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978340 SCV002274950 benign Kabuki syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008366 SCV005636052 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758851 SCV005367179 uncertain significance KMT2D-related disorder 2024-05-29 no assertion criteria provided clinical testing The KMT2D c.3699G>T variant is predicted to result in the amino acid substitution p.Glu1233Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, 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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