ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser)

gnomAD frequency: 0.00051  dbSNP: rs147014136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734177 SCV000862300 likely benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV000891406 SCV001035222 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000891406 SCV001840129 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891406 SCV004129425 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003965546 SCV004780629 benign KMT2A-related disorder 2021-11-18 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).

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