ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys)

gnomAD frequency: 0.00088  dbSNP: rs115569620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547348 SCV000655716 likely benign Luscan-Lumish syndrome 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436936 SCV004154393 benign not provided 2024-04-01 criteria provided, single submitter clinical testing SETD2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004530037 SCV004721706 likely benign SETD2-related disorder 2020-06-08 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 RCV000122031 SCV000086242 not provided not specified 2013-09-19 no assertion provided reference population

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