ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8047-7dup

dbSNP: rs200754433
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177647 SCV000229549 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177647 SCV000247776 benign not specified 2014-05-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374978 SCV000379220 uncertain significance Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000374978 SCV001112496 benign Kabuki syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001706136 SCV001904223 benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177647 SCV005620882 benign not specified 2024-04-04 criteria provided, single submitter clinical testing

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