ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) (rs146044282)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121420 SCV000111994 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000121420 SCV000193367 likely benign not specified 2013-12-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514596 SCV000610607 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514596 SCV000842764 benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000297958 SCV001014456 benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000509094 SCV001138721 likely benign Kabuki syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121420 SCV000085611 not provided not specified 2013-09-19 no assertion provided reference population
GenomeConnect, ClinGen RCV000509094 SCV000607062 not provided Kabuki syndrome 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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