ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln)

dbSNP: rs776110112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734860 SCV000863038 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734860 SCV005093751 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2D: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005092159 SCV005768742 benign Kabuki syndrome 2024-10-07 criteria provided, single submitter clinical testing

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