ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)

gnomAD frequency: 0.00061  dbSNP: rs201581582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177547 SCV000229432 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659746 SCV000781595 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522735 SCV001732330 benign Kabuki syndrome 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001618333 SCV001844397 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537435 SCV004723802 benign KMT2D-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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