ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.192G>A (p.Arg64=)

gnomAD frequency: 0.00014  dbSNP: rs375169999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300231 SCV000332130 uncertain significance not provided 2015-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059077 SCV002444794 likely benign Kabuki syndrome 2024-01-21 criteria provided, single submitter clinical testing

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