ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.11147-5_11147-3del

dbSNP: rs369393980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000905301 SCV001049880 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000905301 SCV001794924 likely benign not provided 2022-07-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000905301 SCV004129428 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003923058 SCV004741801 likely benign KMT2A-related disorder 2024-01-05 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).

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