ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14436C>T (p.Pro4812=)

gnomAD frequency: 0.00006  dbSNP: rs369799687
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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 RCV000352336 SCV001120710 likely benign Kabuki syndrome 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703638 SCV005213050 likely benign not provided criteria provided, single submitter not provided

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