ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val)

gnomAD frequency: 0.00247  dbSNP: rs140719911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894000 SCV001037965 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517596 SCV003592200 benign Inborn genetic diseases 2021-11-29 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.
ITMI RCV000121468 SCV000085662 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004530013 SCV004746781 benign KMT2C-related disorder 2022-03-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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