ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7060C>G (p.Pro2354Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003090244 SCV003479419 likely benign Kabuki syndrome 2022-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731489 SCV005335809 uncertain significance KMT2D-related disorder 2024-08-23 no assertion criteria provided clinical testing The KMT2D c.7060C>G variant is predicted to result in the amino acid substitution p.Pro2354Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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