ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15686G>A (p.Arg5229His)

gnomAD frequency: 0.00006  dbSNP: rs201628357
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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 RCV003390222 SCV004130695 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing KMT2D: PP2
Fulgent Genetics, Fulgent Genetics RCV005012947 SCV005636754 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005100017 SCV005771629 benign Kabuki syndrome 2025-01-22 criteria provided, single submitter clinical testing

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