ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp)

gnomAD frequency: 0.00065  dbSNP: rs139227835
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514160 SCV000609646 likely benign not provided 2017-08-30 criteria provided, single submitter clinical testing
Invitae RCV000514160 SCV001061121 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000514160 SCV001777853 benign not provided 2021-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514160 SCV003916788 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KMT2A: BS1
PreventionGenetics, part of Exact Sciences RCV003942671 SCV004775157 likely benign KMT2A-related disorder 2021-09-15 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 RCV004023476 SCV004896183 likely benign Inborn genetic diseases 2021-09-29 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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