ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=)

gnomAD frequency: 0.00016  dbSNP: rs9332844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904410 SCV001048925 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000904410 SCV001863201 benign not provided 2020-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000904410 SCV002821667 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing KMT2A: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003923038 SCV004740380 benign KMT2A-related disorder 2019-04-01 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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