ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.3276G>A (p.Ser1092=)

gnomAD frequency: 0.00160  dbSNP: rs199942615
Minimum review status: Collection method:
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 RCV000890944 SCV001034724 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890944 SCV001501712 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2B: BP4, BP7
GeneDx RCV000890944 SCV001896020 benign not provided 2020-03-17 criteria provided, single submitter clinical testing

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