ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10723A>G (p.Thr3575Ala)

gnomAD frequency: 0.00035  dbSNP: rs142997680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055366 SCV002490204 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542891 SCV004763787 likely benign KMT2C-related disorder 2023-07-17 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 RCV004019686 SCV004894757 likely benign Inborn genetic diseases 2021-09-22 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.
ITMI RCV000121498 SCV000085692 not provided not specified 2013-09-19 no assertion provided reference population

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