ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr)

gnomAD frequency: 0.00001  dbSNP: rs367758673
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878359 SCV001021255 benign Kabuki syndrome 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001650982 SCV001868208 benign not provided 2020-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30459467)
CeGaT Center for Human Genetics Tuebingen RCV001650982 SCV004698931 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KMT2D: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001650982 SCV005235780 benign not provided criteria provided, single submitter not provided
ITMI RCV000121447 SCV000085641 not provided not specified 2013-09-19 no assertion provided reference population

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