ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)

gnomAD frequency: 0.00047  dbSNP: rs145650484
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652623 SCV000774494 likely benign Luscan-Lumish syndrome 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000652623 SCV000895585 uncertain significance Luscan-Lumish syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001719158 SCV001947477 benign not provided 2019-11-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816638 SCV002071053 benign not specified 2019-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719158 SCV004154392 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SETD2: BP5, BS1
PreventionGenetics, part of Exact Sciences RCV004533417 SCV004730835 likely benign SETD2-related disorder 2021-03-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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