ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro)

gnomAD frequency: 0.00059  dbSNP: rs142985138
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896078 SCV001040153 benign not provided 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000896078 SCV001891656 benign not provided 2019-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539442 SCV003695349 likely benign Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003950467 SCV004758517 likely benign KMT2A-related disorder 2022-06-07 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) RCV000896078 SCV001799416 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000896078 SCV001931483 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000896078 SCV001972733 likely benign not provided no assertion criteria provided clinical testing

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