ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe)

gnomAD frequency: 0.00101  dbSNP: rs139989306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894699 SCV001038701 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000894699 SCV001868256 benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818698 SCV002071068 likely benign not specified 2021-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894699 SCV004129381 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003950444 SCV004769851 benign KMT2A-related disorder 2020-03-06 criteria provided, single submitter 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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