ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly)

gnomAD frequency: 0.00003  dbSNP: rs201752182
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945919 SCV001091994 benign Luscan-Lumish syndrome 2023-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573515 SCV004154385 benign not provided 2022-05-01 criteria provided, single submitter clinical testing SETD2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004542918 SCV004791314 benign SETD2-related disorder 2020-07-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000122026 SCV000086237 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573515 SCV001799508 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000122026 SCV001968305 benign not specified no assertion criteria provided clinical testing

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