ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.2261C>T (p.Pro754Leu)

gnomAD frequency: 0.00344  dbSNP: rs179686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539356 SCV001757122 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001539356 SCV002388234 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001539356 SCV004700684 benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2B: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001539356 SCV005206993 likely benign not provided criteria provided, single submitter not provided

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