ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1280-7C>T

gnomAD frequency: 0.00458  dbSNP: rs151060791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951567 SCV001097978 benign Tatton-Brown-Rahman overgrowth syndrome 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001683697 SCV001896487 benign not provided 2020-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683697 SCV004138693 benign not provided 2023-05-01 criteria provided, single submitter clinical testing DNMT3A: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001683697 SCV005239617 benign not provided criteria provided, single submitter not provided

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