ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6073T>A (p.Ser2025Thr)

gnomAD frequency: 0.00208  dbSNP: rs141338021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055363 SCV002417876 benign not provided 2023-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002055363 SCV004700412 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KMT2C: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004530015 SCV004749102 likely benign KMT2C-related disorder 2024-02-12 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 RCV000121479 SCV000085673 not provided not specified 2013-09-19 no assertion provided reference population

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