ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8459A>G (p.Asn2820Ser)

gnomAD frequency: 0.00001  dbSNP: rs587778500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854651 SCV002291198 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515881 SCV003583497 likely benign Inborn genetic diseases 2021-10-13 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.
PreventionGenetics, part of Exact Sciences RCV003952607 SCV004784625 likely benign KMT2C-related condition 2024-01-27 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).
ITMI RCV000121484 SCV000085678 not provided not specified 2013-09-19 no assertion provided reference population

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