ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3606C>T (p.Ser1202=)

gnomAD frequency: 0.00016  dbSNP: rs369602516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901619 SCV001045998 benign Kabuki syndrome 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001655644 SCV001863290 benign not provided 2021-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001655644 SCV004184237 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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