ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12755C>T (p.Ala4252Val)

gnomAD frequency: 0.00004  dbSNP: rs537579296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003965022 SCV004778464 likely benign KMT2C-related condition 2023-07-22 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 RCV000121525 SCV000085719 not provided not specified 2013-09-19 no assertion provided reference population

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