ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=)

gnomAD frequency: 0.00001  dbSNP: rs370192252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516127 SCV001724354 benign Kabuki syndrome 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000924406 SCV001745787 benign not provided 2019-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000924406 SCV001747064 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543472 SCV004778467 likely benign KMT2D-related disorder 2023-12-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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