ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile)

gnomAD frequency: 0.00028  dbSNP: rs145061625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903536 SCV001048008 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000903536 SCV001947502 benign not provided 2019-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910792 SCV004721723 likely benign KMT2A-related disorder 2022-06-27 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).
Ambry Genetics RCV004028537 SCV004896190 likely benign Inborn genetic diseases 2022-08-17 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.

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