ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro)

gnomAD frequency: 0.00245  dbSNP: rs115580901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000956550 SCV001103316 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000956550 SCV004157012 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KMT2C: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003945089 SCV004772561 benign KMT2C-related condition 2019-07-10 criteria provided, single submitter 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).
ITMI RCV000121512 SCV000085706 not provided not specified 2013-09-19 no assertion provided reference population

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