ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10024C>T (p.Arg3342Cys)

gnomAD frequency: 0.00006  dbSNP: rs371869550
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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 RCV001476840 SCV001681055 likely benign Kabuki syndrome 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001560883 SCV001783377 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing
ITMI RCV000121415 SCV000085605 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004758644 SCV005347601 likely benign KMT2D-related disorder 2024-06-01 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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