ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2534G>A (p.Arg845Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004810783 SCV005432947 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing KMT2D: BP4
Fulgent Genetics, Fulgent Genetics RCV005006575 SCV005636098 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105224 SCV005771168 benign Kabuki syndrome 2024-11-30 criteria provided, single submitter clinical testing

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