ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.3291A>G (p.Pro1097=)

gnomAD frequency: 0.00438  dbSNP: rs9332783
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954728 SCV001101381 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000954728 SCV001886682 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954728 SCV002063014 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2A: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954728 SCV005214693 likely benign not provided criteria provided, single submitter not provided

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