ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1434A>T (p.Pro478=)

gnomAD frequency: 0.00002  dbSNP: rs770225131
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422067 SCV001624605 likely benign Kabuki syndrome 2023-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546651 SCV005041566 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7

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