ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val)

gnomAD frequency: 0.00076  dbSNP: rs145249825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903780 SCV001048262 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000903780 SCV001873312 benign not provided 2019-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923027 SCV004755754 likely benign KMT2A-related disorder 2019-06-06 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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