ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15738C>T (p.Ile5246=)

gnomAD frequency: 0.00001  dbSNP: rs1263016051
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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 RCV002078192 SCV002377056 likely benign Kabuki syndrome 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395380 SCV004130694 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KMT2D: BP7

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