ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)

gnomAD frequency: 0.00004  dbSNP: rs372740284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732648 SCV000860624 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855689 SCV002152078 benign Kabuki syndrome 2023-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485922 SCV002780968 uncertain significance Kabuki syndrome 1 2021-07-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732648 SCV005093508 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KMT2D: BP4

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