ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys)

gnomAD frequency: 0.00216  dbSNP: rs186696516
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121428 SCV000112003 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659785 SCV000781637 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871997 SCV001013742 benign Kabuki syndrome 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390777 SCV004130725 benign not provided 2023-01-01 criteria provided, single submitter clinical testing KMT2D: PP2, BS1, BS2
ITMI RCV000121428 SCV000085620 not provided not specified 2013-09-19 no assertion provided reference population

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