ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu)

gnomAD frequency: 0.00001  dbSNP: rs782800112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001969892 SCV002226286 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911121 SCV004721559 uncertain significance KMT2A-related disorder 2023-10-18 criteria provided, single submitter clinical testing The KMT2A c.9176C>T variant is predicted to result in the amino acid substitution p.Pro3059Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of South Asian descent in gnomAD ( At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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