ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)

gnomAD frequency: 0.00005  dbSNP: rs115859828
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652615 SCV000774486 likely benign Luscan-Lumish syndrome 2023-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000652615 SCV000895584 uncertain significance Luscan-Lumish syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001705897 SCV001885314 benign not provided 2021-05-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705897 SCV004154388 benign not provided 2022-03-01 criteria provided, single submitter clinical testing SETD2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004542917 SCV004795100 likely benign SETD2-related disorder 2021-09-17 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).
ITMI RCV000122023 SCV000086234 not provided not specified 2013-09-19 no assertion provided reference population

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