ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu)

gnomAD frequency: 0.00127  dbSNP: rs185660524
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121372 SCV000112055 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000121372 SCV000309613 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000121372 SCV000613938 benign not specified 2017-06-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659700 SCV000781547 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000288070 SCV001005807 benign Kabuki syndrome 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001711235 SCV001940578 benign not provided 2018-11-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Breakthrough Genomics, Breakthrough Genomics RCV001711235 SCV005213083 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001711235 SCV005879350 benign not provided 2024-08-12 criteria provided, single submitter clinical testing
ITMI RCV000121372 SCV000085554 not provided not specified 2013-09-19 no assertion provided reference population

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