ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=)

gnomAD frequency: 0.00062  dbSNP: rs190643171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877369 SCV001020098 benign Kabuki syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001672976 SCV001882689 benign not provided 2019-06-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001672976 SCV001931196 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001672976 SCV001972897 likely benign not provided no assertion criteria provided clinical testing

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