ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=)

gnomAD frequency: 0.00014  dbSNP: rs146416049
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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 RCV002316169 SCV000847796 likely benign Inborn genetic diseases 2016-09-08 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 RCV000865612 SCV001006606 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000865612 SCV001777862 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865612 SCV004123680 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SZT2: BP4
Genome-Nilou Lab RCV003457756 SCV004179925 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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