ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) (rs200369026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000243270 SCV000613940 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243270 SCV000702131 benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378605 SCV000379263 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243270 SCV000309624 likely benign not specified criteria provided, single submitter clinical testing

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