ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.1257T>C (p.His419=)

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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 RCV002903364 SCV003247947 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002903364 SCV004155709 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KMT2E: BP4, BS1

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