ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.4889G>A (p.Arg1630Gln)

gnomAD frequency: 0.00005  dbSNP: rs143317202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897923 SCV001042099 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000897923 SCV004698664 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2A: BP4
PreventionGenetics, part of Exact Sciences RCV003910701 SCV004726504 likely benign KMT2A-related disorder 2023-06-08 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).

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