ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7514C>A (p.Pro2505His)

gnomAD frequency: 0.00001  dbSNP: rs782617745
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182840 SCV002349950 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002182840 SCV002577191 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002182840 SCV005212772 likely benign not provided criteria provided, single submitter not provided

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