ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp)

gnomAD frequency: 0.00004  dbSNP: rs370155635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289095 SCV001476685 uncertain significance not provided 2020-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001863152 SCV002157770 benign Kabuki syndrome 2024-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001289095 SCV002540342 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29627316)
Fulgent Genetics, Fulgent Genetics RCV005012719 SCV005636442 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-26 criteria provided, single submitter clinical testing

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