ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu)

gnomAD frequency: 0.00150  dbSNP: rs138908625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506682 SCV002813117 likely benign Kleefstra syndrome 2 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573764 SCV005219892 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573764 SCV001800106 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727896 SCV001971290 benign not specified no assertion criteria provided clinical testing

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