ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)

gnomAD frequency: 0.01710  dbSNP: rs111305262
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146230 SCV000193471 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000146230 SCV000202913 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000146230 SCV000309629 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000323262 SCV000636670 benign Kabuki syndrome 2025-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001948 SCV001159734 benign Kabuki syndrome 1 2018-09-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000146230 SCV001476683 benign not specified 2024-02-16 criteria provided, single submitter clinical testing
GeneDx RCV001705947 SCV001837028 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001001948 SCV002809434 benign Kabuki syndrome 1 2021-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705947 SCV005213068 likely benign not provided criteria provided, single submitter not provided

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