ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16179C>T (p.Thr5393=)

gnomAD frequency: 0.00002  dbSNP: rs766403520
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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 RCV002129344 SCV002406357 likely benign Kabuki syndrome 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395393 SCV004130693 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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