ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val)

gnomAD frequency: 0.00002  dbSNP: rs558965718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772946 SCV002003635 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540554 SCV003503170 benign Kabuki syndrome 2023-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006032 SCV005636445 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-11 criteria provided, single submitter clinical testing

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