ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9930A>G (p.Gln3310=)

gnomAD frequency: 0.00005  dbSNP: rs750004710
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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 RCV003588307 SCV004343138 benign Kabuki syndrome 2023-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013021 SCV005636427 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758940 SCV005347964 likely benign KMT2D-related disorder 2024-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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