ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg)

gnomAD frequency: 0.00228  dbSNP: rs72895708
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557803 SCV000655728 benign Luscan-Lumish syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001675629 SCV001893744 benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122034 SCV002065545 benign not specified 2018-06-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000557803 SCV002553725 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675629 SCV004154384 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SETD2: BP4, BS2
ITMI RCV000122034 SCV000086245 not provided not specified 2013-09-19 no assertion provided reference population

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