ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=)

gnomAD frequency: 0.00279  dbSNP: rs12089231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316057 SCV000847505 likely benign Inborn genetic diseases 2016-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000862871 SCV001003435 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000862871 SCV001943082 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000862871 SCV004123704 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
Genome-Nilou Lab RCV003457753 SCV004178067 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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