ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro)

gnomAD frequency: 0.00089  dbSNP: rs146191865
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514461 SCV000610827 likely benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV000514461 SCV001060869 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514461 SCV001862344 benign not provided 2019-06-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29574747)
Ambry Genetics RCV002527435 SCV003720117 benign Inborn genetic diseases 2022-04-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000514461 SCV004129426 benign not provided 2023-10-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003935355 SCV004755909 likely benign KMT2A-related disorder 2020-06-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514461 SCV001797354 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514461 SCV001932921 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514461 SCV001975571 likely benign not provided no assertion criteria provided clinical testing

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