ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr)

gnomAD frequency: 0.00075  dbSNP: rs202013880
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121446 SCV000112007 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878916 SCV001021907 likely benign Kabuki syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001705745 SCV001890694 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483140 SCV002795091 likely benign Kabuki syndrome 1 2021-10-12 criteria provided, single submitter clinical testing
ITMI RCV000121446 SCV000085640 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004537341 SCV004743140 likely benign KMT2D-related disorder 2019-09-18 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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