ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr)

gnomAD frequency: 0.00001  dbSNP: rs1196290590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336045 SCV001529326 uncertain significance Kabuki syndrome 1 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003227026 SCV003923788 uncertain significance not provided 2022-11-07 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 RCV005094435 SCV005818766 benign Kabuki syndrome 2025-01-19 criteria provided, single submitter clinical testing

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