ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His)

gnomAD frequency: 0.00005  dbSNP: rs757247893
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866043 SCV002267543 benign Kabuki syndrome 2024-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005971 SCV005636412 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-20 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572922 SCV001798026 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572922 SCV001964400 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004536206 SCV004732814 likely benign KMT2D-related disorder 2023-06-07 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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